Expansion based on http://purl.obolibrary.org/obo/hp.owl version http://purl.obolibrary.org/obo/hp/releases/2020-06-08/hp.owl
| Code | Display |
| http://purl.obolibrary.org/obo/CHEBI_27311 | volatile oil component |
| HP:0100610 | Maternal hyperphenylalaninemia |
| HP:0100611 | Multiple glomerular cysts |
| HP:0100614 | Myositis |
| HP:0100613 | Death in early adulthood |
| HP:0100616 | Testicular teratoma |
| HP:0002253 | Colonic diverticula |
| http://purl.obolibrary.org/obo/UBERON_0003043 | posterior part of anterior commissure |
| HP:0100618 | Leydig cell neoplasia |
| HP:0100617 | Testicular seminoma |
| HP:0002254 | Intermittent diarrhea |
| http://purl.obolibrary.org/obo/UBERON_0017692 | internal surface of cranial base |
| http://purl.obolibrary.org/obo/UBERON_0003059 | presomitic mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0017690 | internal surface of frontal bone |
| HP:0100601 | Eclampsia |
| HP:0100600 | Penoscrotal transposition |
| http://purl.obolibrary.org/obo/UBERON_0003051 | ear vesicle |
| HP:0100602 | Preeclampsia |
| http://purl.obolibrary.org/obo/UBERON_0003052 | midbrain-hindbrain boundary |
| HP:0002263 | Exaggerated cupid's bow |
| HP:0100604 | Neoplasm of the lip |
| HP:0100607 | Dysmenorrhea |
| http://purl.obolibrary.org/obo/UBERON_0003056 | pre-chordal neural plate |
| http://purl.obolibrary.org/obo/UBERON_0003057 | chordal neural plate |
| HP:0100608 | Metrorrhagia |
| http://purl.obolibrary.org/obo/CHEBI_15356 | cysteine |
| HP:0002265 | Large fleshy ears |
| HP:0002268 | Paroxysmal dystonia |
| http://purl.obolibrary.org/obo/UBERON_0003050 | olfactory placode |
| HP:0002267 | Exaggerated startle response |
| http://purl.obolibrary.org/obo/CHEBI_29994 | D-aspartate(2-) |
| http://purl.obolibrary.org/obo/UBERON_0029636 | lumbar spinal cord gray matter |
| http://purl.obolibrary.org/obo/CL_1001516 | intestinal enteroendocrine cell |
| HP:0002273 | Tetraparesis |
| http://purl.obolibrary.org/obo/UBERON_0003063 | prechordal plate |
| http://purl.obolibrary.org/obo/UBERON_0003064 | intermediate mesoderm |
| http://purl.obolibrary.org/obo/CHEBI_29990 | D-aspartate(1-) |
| http://purl.obolibrary.org/obo/UBERON_0003066 | pharyngeal arch 2 |
| http://purl.obolibrary.org/obo/CHEBI_29991 | L-aspartate(1-) |
| http://purl.obolibrary.org/obo/UBERON_0003068 | axial mesoderm |
| http://purl.obolibrary.org/obo/CHEBI_29993 | L-aspartate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_29995 | aspartate(2-) |
| http://purl.obolibrary.org/obo/UBERON_0003069 | otic placode |
| http://purl.obolibrary.org/obo/UBERON_0003060 | pronephric duct |
| http://purl.obolibrary.org/obo/CHEBI_66916 | alanine zwitterion |
| http://purl.obolibrary.org/obo/CL_0002400 | Fraction B/C precursor B cell |
| http://purl.obolibrary.org/obo/CHEBI_29985 | L-glutamate(1-) |
| http://purl.obolibrary.org/obo/CHEBI_29986 | D-glutamate(1-) |
| http://purl.obolibrary.org/obo/CHEBI_29988 | L-glutamate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_29989 | D-glutamate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_29987 | glutamate(2-) |
| http://purl.obolibrary.org/obo/UBERON_0003073 | lens placode |
| http://purl.obolibrary.org/obo/UBERON_0003074 | mesonephric duct |
| HP:0002283 | Global brain atrophy |
| HP:0002286 | Fair hair |
| http://purl.obolibrary.org/obo/UBERON_0003076 | posterior neural tube |
| http://purl.obolibrary.org/obo/UBERON_0003077 | paraxial mesoderm |
| http://purl.obolibrary.org/obo/CHEBI_17996 | chloride |
| HP:0002280 | Enlarged cisterna magna |
| http://purl.obolibrary.org/obo/UBERON_0003070 | trigeminal placode complex |
| http://purl.obolibrary.org/obo/UBERON_0003067 | dorsolateral placode |
| HP:0002287 | Progressive alopecia |
| http://purl.obolibrary.org/obo/CHEBI_66922 | citrullinate |
| http://purl.obolibrary.org/obo/UBERON_0003071 | eye primordium |
| http://purl.obolibrary.org/obo/UBERON_0003072 | optic cup |
| HP:0002289 | Alopecia universalis |
| http://purl.obolibrary.org/obo/CHEBI_66924 | creatinate |
| http://purl.obolibrary.org/obo/CL_1001573 | nasopharyngeal epithelial cell |
| http://purl.obolibrary.org/obo/CL_1001575 | uterine cervix squamous cell |
| http://purl.obolibrary.org/obo/CL_0002436 | mature CD4 single-positive thymocyte |
| http://purl.obolibrary.org/obo/CL_1001576 | oral mucosa squamous cell |
| http://purl.obolibrary.org/obo/CL_0002437 | mature CD8 single-positive thymocyte |
| http://purl.obolibrary.org/obo/CL_1001577 | tonsil squamous cell |
| http://purl.obolibrary.org/obo/CL_0002434 | CD24-positive, CD8 single-positive thymocyte |
| http://purl.obolibrary.org/obo/UBERON_0005669 | peritoneal cavity mesothelium |
| HP:0002218 | Silver-gray hair |
| http://purl.obolibrary.org/obo/CL_1001578 | vagina squamous cell |
| http://purl.obolibrary.org/obo/CL_0002435 | CD69-positive, CD8-positive single-positive thymocyte |
| http://purl.obolibrary.org/obo/CL_0002432 | CD24-positive, CD4 single-positive thymocyte |
| http://purl.obolibrary.org/obo/UBERON_0005667 | connecting stalk mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0005666 | 4th arch endoderm |
| http://purl.obolibrary.org/obo/CL_0002433 | CD69-positive, CD4-positive single-positive thymocyte |
| http://purl.obolibrary.org/obo/MPATH_622 | steatosis |
| HP:0004870 | Chronic hemolytic anemia |
| HP:0002215 | Sparse axillary hair |
| http://purl.obolibrary.org/obo/UBERON_0005665 | 3rd arch endoderm |
| HP:0004876 | Spontaneous neonatal pneumothorax |
| http://purl.obolibrary.org/obo/UBERON_0005664 | 2nd arch endoderm |
| HP:0004878 | Intercostal muscle weakness |
| http://purl.obolibrary.org/obo/UBERON_0005662 | 4th arch ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0017648 | ventral body wall |
| HP:0002211 | White forelock |
| http://purl.obolibrary.org/obo/UBERON_0005661 | 3rd arch ectoderm |
| HP:0004872 | Incisional hernia |
| http://purl.obolibrary.org/obo/UBERON_0017649 | dorsal body wall |
| http://purl.obolibrary.org/obo/UBERON_0005660 | 2nd arch ectoderm |
| http://purl.obolibrary.org/obo/CL_1001581 | lateral ventricle glial cell |
| http://purl.obolibrary.org/obo/CL_1001582 | lateral ventricle neuron |
| HP:0002213 | Fine hair |
| HP:0004875 | Neonatal inspiratory stridor |
| http://purl.obolibrary.org/obo/CL_0002427 | resting double-positive thymocyte |
| http://purl.obolibrary.org/obo/CL_0002428 | double-positive blast |
| http://purl.obolibrary.org/obo/CL_0002425 | early T lineage precursor |
| http://purl.obolibrary.org/obo/CL_1001586 | mammary gland glandular cell |
| http://purl.obolibrary.org/obo/CL_1001587 | uterine cervix glandular cell |
| http://purl.obolibrary.org/obo/CL_1001588 | colon glandular cell |
| http://purl.obolibrary.org/obo/CL_0002423 | DN2a thymocyte |
| http://purl.obolibrary.org/obo/MPATH_615 | cardiomyopathy |
| http://purl.obolibrary.org/obo/CL_1001589 | duodenum glandular cell |
| http://purl.obolibrary.org/obo/CL_0002424 | DN2b thymocyte |
| http://purl.obolibrary.org/obo/UBERON_0017654 | buccal gland |
| http://purl.obolibrary.org/obo/CL_0002421 | nucleated reticulocyte |
| http://purl.obolibrary.org/obo/CL_0002429 | CD69-positive double-positive thymocyte |
| HP:0004880 | Respiratory infections in early life |
| HP:0004881 | Episodic hypoventilation |
| http://purl.obolibrary.org/obo/CL_0002430 | CD4-intermediate, CD8-positive double-positive thymocyte |
| HP:0002226 | White eyebrow |
| http://purl.obolibrary.org/obo/CL_0002431 | CD4-positive, CD8-intermediate double-positive thymocyte |
| HP:0002225 | Sparse pubic hair |
| HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness |
| http://purl.obolibrary.org/obo/UBERON_0005673 | left lung endothelium |
| HP:0002227 | White eyelashes |
| http://purl.obolibrary.org/obo/UBERON_0017659 | ventral surface of penis |
| http://purl.obolibrary.org/obo/CL_1001590 | epididymis glandular cell |
| http://purl.obolibrary.org/obo/UBERON_0005672 | right lung endothelium |
| http://purl.obolibrary.org/obo/CL_1001592 | gall bladder glandular cell |
| HP:0002221 | Absent axillary hair |
| HP:0004885 | Episodic respiratory distress |
| HP:0002223 | Absent eyebrow |
| HP:0004886 | Congenital laryngeal stridor |
| http://purl.obolibrary.org/obo/MPATH_608 | abscess |
| http://purl.obolibrary.org/obo/CHEBI_15361 | pyruvate |
| http://purl.obolibrary.org/obo/UBERON_0005688 | lens vesicle cavity |
| http://purl.obolibrary.org/obo/MPATH_607 | healing and repair structure |
| HP:0004891 | Recurrent infections due to aspiration |
| HP:0002231 | Sparse body hair |
| HP:0002230 | Generalized hirsutism |
| http://purl.obolibrary.org/obo/UBERON_0003023 | pontine tegmentum |
| http://purl.obolibrary.org/obo/UBERON_0005687 | orbitosphenoid cartilage element |
| HP:0004898 | Persistent lactic acidosis |
| HP:0002236 | Frontal upsweep of hair |
| http://purl.obolibrary.org/obo/UBERON_0005685 | midgut dorsal mesentery |
| http://purl.obolibrary.org/obo/CHEBI_15366 | acetic acid |
| http://purl.obolibrary.org/obo/CHEBI_15367 | all-trans-retinoic acid |
| HP:0004894 | Laryngotracheal stenosis |
| HP:0002235 | Pili canaliculi |
| HP:0004897 | Stress/infection-induced lactic acidosis |
| HP:0002234 | Early balding |
| http://purl.obolibrary.org/obo/UBERON_0017670 | bony part of cervical vertebral arch |
| http://purl.obolibrary.org/obo/UBERON_0017671 | bony part of vertebral arch of first sacral vertebra |
| http://purl.obolibrary.org/obo/CL_1001567 | lung endothelial cell |
| http://purl.obolibrary.org/obo/CL_1001568 | pulmonary artery endothelial cell |
| http://purl.obolibrary.org/obo/UBERON_0005699 | pedal digit 5 mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003038 | thoracic spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0003039 | anterior commissure anterior part |
| http://www.informatics.jax.org/marker/MGI:1202394 | Cblif (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_27363 | zinc atom |
| http://purl.obolibrary.org/obo/UBERON_0005698 | pedal digit 4 mesenchyme |
| HP:0002248 | Hematemesis |
| HP:0002247 | Duodenal atresia |
| http://purl.obolibrary.org/obo/CL_0002453 | oligodendrocyte precursor cell |
| http://purl.obolibrary.org/obo/UBERON_0005697 | pedal digit 3 mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0005696 | pedal digit 2 mesenchyme |
| HP:0002249 | Melena |
| http://purl.obolibrary.org/obo/UBERON_0005695 | manual digit 5 mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0005694 | manual digit 4 mesenchyme |
| http://purl.obolibrary.org/obo/CHEBI_15379 | dioxygen |
| http://purl.obolibrary.org/obo/UBERON_0005693 | manual digit 3 mesenchyme |
| HP:0002243 | Protein-losing enteropathy |
| http://purl.obolibrary.org/obo/UBERON_0005692 | manual digit 2 mesenchyme |
| http://purl.obolibrary.org/obo/CL_1001572 | colon endothelial cell |
| HP:0002245 | Meckel diverticulum |
| http://purl.obolibrary.org/obo/UBERON_0005626 | ventral mesogastrium |
| HP:0100690 | Mosaic central corneal dystrophy |
| http://purl.obolibrary.org/obo/UBERON_0005625 | tubotympanic recess lumen |
| http://purl.obolibrary.org/obo/UBERON_0005622 | right dorsal aorta |
| HP:0100694 | Tibial torsion |
| HP:0100693 | Iridodonesis |
| HP:0100695 | Lipedema |
| HP:0100698 | Subcutaneous neurofibromas |
| HP:0100697 | Neurofibrosarcoma |
| http://purl.obolibrary.org/obo/UBERON_0005620 | primary palate |
| http://purl.obolibrary.org/obo/CHEBI_17924 | D-glucitol |
| http://purl.obolibrary.org/obo/PR_P55095 | glucagon (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0005638 | anterior chamber epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005637 | pyloric region epithelium |
| HP:0100681 | Esophageal duplication |
| HP:0100682 | Tracheal atresia |
| HP:0100687 | Polyotia |
| HP:0100686 | Enthesitis |
| http://purl.obolibrary.org/obo/CHEBI_17933 | calcidiol |
| http://purl.obolibrary.org/obo/UBERON_0017615 | vomerine dentition |
| http://purl.obolibrary.org/obo/CL_1001595 | rectum glandular cell |
| http://purl.obolibrary.org/obo/CL_1001597 | seminal vesicle glandular cell |
| http://purl.obolibrary.org/obo/UBERON_0005649 | pedal digit 2 epithelium |
| http://purl.obolibrary.org/obo/CL_1001598 | small intestine glandular cell |
| http://purl.obolibrary.org/obo/UBERON_0005648 | manual digit 5 epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005647 | manual digit 4 epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005646 | manual digit 3 epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005645 | manual digit 2 epithelium |
| HP:0100670 | Rough bone trabeculation |
| HP:0100674 | Vaginal hematocele |
| HP:0100673 | Vaginal hydrocele |
| HP:0100676 | Vaginal lymphocele |
| HP:0100675 | Vaginal pyocele |
| HP:0100677 | Vulval varicose vein |
| http://purl.obolibrary.org/obo/UBERON_0005659 | primary palate epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005658 | secondary palatal shelf epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005656 | lens vesicle epithelium |
| HP:0100661 | Trigeminal neuralgia |
| HP:0100663 | Synotia |
| HP:0100662 | Chondritis |
| HP:0100665 | Angioedema |
| http://purl.obolibrary.org/obo/UBERON_0005654 | lower jaw molar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005653 | upper jaw molar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005652 | pedal digit 5 epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005651 | pedal digit 4 epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005650 | pedal digit 3 epithelium |
| http://purl.obolibrary.org/obo/CHEBI_30916 | 2-oxoglutarate(1-) |
| HP:0100651 | Type I diabetes mellitus |
| HP:0100654 | Retrobulbar optic neuritis |
| HP:0100653 | Optic neuritis |
| http://purl.obolibrary.org/obo/CHEBI_30915 | 2-oxoglutaric acid |
| HP:0100658 | Cellulitis |
| http://purl.obolibrary.org/obo/CHEBI_30921 | glutarate(2-) |
| HP:0100657 | Thoracoabdominal eventration |
| HP:0100656 | Thoracoabdominal wall defect |
| HP:0002297 | Red hair |
| HP:0002296 | Progressive hypotrichosis |
| http://purl.obolibrary.org/obo/CHEBI_30920 | 3-hydroxy-3-methylglutarate(1-) |
| HP:0002290 | Poliosis |
| HP:0002292 | Frontal balding |
| http://purl.obolibrary.org/obo/CHEBI_17968 | butyrate |
| HP:0100640 | Laryngeal cyst |
| http://purl.obolibrary.org/obo/CHEBI_29922 | sulfo group |
| HP:0100645 | Cystocele |
| HP:0100644 | Melanonychia |
| HP:0100647 | Graves disease |
| http://purl.obolibrary.org/obo/CHEBI_15318 | xanthine |
| http://purl.obolibrary.org/obo/UBERON_0005606 | hyaloid cavity |
| http://purl.obolibrary.org/obo/UBERON_0005604 | extrahepatic part of hepatic duct |
| http://purl.obolibrary.org/obo/UBERON_0005602 | dorsal mesogastrium |
| HP:0100636 | Pulmonary paraglioma |
| HP:0100635 | Carotid paraganglioma |
| HP:0100638 | Neoplasm of the pharynx |
| http://purl.obolibrary.org/obo/UBERON_0005614 | lens anterior epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005613 | left dorsal aorta |
| HP:0100621 | Dysgerminoma |
| http://purl.obolibrary.org/obo/UBERON_0005619 | secondary palatal shelf |
| HP:0100622 | Maternal seizure |
| HP:0100624 | Corpus cavernosum sclerosis |
| HP:0100623 | Abnormality of corpus cavernosum |
| HP:0100626 | Chronic hepatic failure |
| HP:0100628 | Esophageal diverticulum |
| http://purl.obolibrary.org/obo/PR_000046634 | PR:000046634 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/CHEBI_52290 | mitogen |
| http://purl.obolibrary.org/obo/PR_000046625 | CD27 antigen, signal peptide removed form (human) |
| http://purl.obolibrary.org/obo/PR_000046624 | PR:000046624 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/GO_0042405 | nuclear inclusion body |
| http://purl.obolibrary.org/obo/PR_000046618 | PR:000046618 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_000046654 | PR:000046654 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_000046653 | PR:000046653 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_000046641 | CD44 antigen, signal peptide removed form (human) |
| http://purl.obolibrary.org/obo/PR_000046639 | PR:000046639 located_in GO:0005886 |
| HP:0004836 | Acute promyelocytic leukemia |
| http://purl.obolibrary.org/obo/PATO_0001987 | saccular |
| HP:0004839 | Pyropoikilocytosis |
| HP:0004835 | Microspherocytosis |
| HP:0004831 | Recurrent thromboembolism |
| http://purl.obolibrary.org/obo/GO_0042493 | response to drug |
| HP:0004848 | Ph-positive acute lymphoblastic leukemia |
| http://purl.obolibrary.org/obo/PATO_0001977 | angular |
| http://purl.obolibrary.org/obo/CHEBI_27266 | valine |
| HP:0004844 | Coombs-positive hemolytic anemia |
| HP:0004845 | Acute monocytic leukemia |
| HP:0004846 | Prolonged bleeding after surgery |
| HP:0004840 | Hypochromic microcytic anemia |
| HP:0004841 | Reduced factor XII activity |
| HP:0004859 | Amegakaryocytic thrombocytopenia |
| HP:0004854 | Intermittent thrombocytopenia |
| HP:0004855 | Reduced protein S activity |
| http://purl.obolibrary.org/obo/CHEBI_66874 | carnosinate |
| HP:0004856 | Normochromic microcytic anemia |
| HP:0004857 | Hyperchromic macrocytic anemia |
| HP:0004850 | Recurrent deep vein thrombosis |
| HP:0004851 | Folate-responsive megaloblastic anemia |
| HP:0002208 | Coarse hair |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations |
| http://purl.obolibrary.org/obo/PATO_0001997 | decreased amount |
| http://purl.obolibrary.org/obo/GO_0042470 | melanosome |
| http://purl.obolibrary.org/obo/PATO_0001993 | multicellular |
| http://purl.obolibrary.org/obo/PATO_0001992 | cellularity |
| HP:0004860 | Thiamine-responsive megaloblastic anemia |
| http://purl.obolibrary.org/obo/GO_0042465 | kinesis |
| HP:0002203 | Respiratory paralysis |
| HP:0004866 | Impaired ADP-induced platelet aggregation |
| HP:0004861 | Refractory macrocytic anemia |
| HP:0004863 | Compensated hemolytic anemia |
| HP:0004864 | Refractory sideroblastic anemia |
| http://purl.obolibrary.org/obo/CHEBI_76283 | sebacate(2-) |
| HP:0004808 | Acute myeloid leukemia |
| HP:0004809 | Neonatal alloimmune thrombocytopenia |
| http://purl.obolibrary.org/obo/PR_P06127 | T-cell surface glycoprotein CD5 (human) |
| HP:0004804 | Congenital hemolytic anemia |
| http://purl.obolibrary.org/obo/GO_2001199 | negative regulation of dendritic cell differentiation |
| http://purl.obolibrary.org/obo/MPATH_579 | ulcer |
| http://purl.obolibrary.org/obo/MPATH_574 | nephroblastomatosis |
| HP:0004800 | Duodenal diverticula |
| HP:0004802 | Episodic hemolytic anemia |
| HP:0004818 | Paroxysmal nocturnal hemoglobinuria |
| HP:0004819 | Normocytic hypoplastic anemia |
| HP:0004814 | Fava bean-induced hemolytic anemia |
| http://purl.obolibrary.org/obo/PR_000046612 | B-lymphocyte antigen CD19, signal peptide removed form (human) |
| HP:0004817 | Drug-sensitive hemolytic anemia |
| http://purl.obolibrary.org/obo/GO_0030421 | defecation |
| http://purl.obolibrary.org/obo/GO_0030424 | axon |
| HP:0004810 | Congenital hypoplastic anemia |
| HP:0004812 | B Acute Lymphoblastic Leukemia |
| HP:0004813 | Post-transfusion thrombocytopenia |
| http://purl.obolibrary.org/obo/PR_000046603 | C-C chemokine receptor type 7, signal peptide removed form (human) |
| HP:0004825 | Increased hemoglobin oxygen affinity |
| HP:0004826 | Folate-unresponsive megaloblastic anemia |
| http://purl.obolibrary.org/obo/CL_1001602 | cerebral cortex endothelial cell |
| HP:0004828 | Refractory anemia with ringed sideroblasts |
| http://purl.obolibrary.org/obo/CL_1001603 | lung macrophage |
| http://purl.obolibrary.org/obo/CL_1001608 | foreskin fibroblast |
| http://purl.obolibrary.org/obo/GO_0030432 | peristalsis |
| http://purl.obolibrary.org/obo/CL_1001609 | muscle fibroblast |
| HP:0004821 | Hypersegmentation of neutrophil nuclei |
| HP:0004822 | Atypical elliptocytosis |
| HP:0004823 | Anisopoikilocytosis |
| HP:0004820 | Acute myelomonocytic leukemia |
| http://purl.obolibrary.org/obo/CHEBI_30839 | orotate |
| HP:0100730 | Bronchogenic cyst |
| HP:0100732 | Pancreatic fibrosis |
| HP:0100735 | Hypertensive crisis |
| HP:0002372 | Normal interictal EEG |
| HP:0100734 | Abnormality of vertebral epiphysis morphology |
| HP:0002371 | Loss of speech |
| HP:0100739 | Bulimia |
| http://purl.obolibrary.org/obo/CHEBI_17883 | hydrogen chloride |
| HP:0002376 | Developmental regression |
| HP:0002375 | Hypokinesia |
| HP:0002378 | Hand tremor |
| http://purl.obolibrary.org/obo/CHEBI_17893 | (2R)-2-hydroxy monocarboxylic acid |
| HP:0100720 | Hypoplasia of the ear cartilage |
| HP:0100721 | Mediastinal lymphadenopathy |
| HP:0100724 | Hypercoagulability |
| HP:0002383 | Encephalitis |
| HP:0100723 | Gastrointestinal stroma tumor |
| HP:0100726 | Kaposi's sarcoma |
| http://purl.obolibrary.org/obo/CHEBI_17898 | all-trans-retinal |
| http://purl.obolibrary.org/obo/UBERON_0005598 | trunk somite |
| http://purl.obolibrary.org/obo/UBERON_0005597 | lung primordium |
| http://purl.obolibrary.org/obo/GO_0150110 | negative regulation of cholesterol esterification |
| http://purl.obolibrary.org/obo/UBERON_0005594 | head somite |
| HP:0002389 | Cavum septum pellucidum |
| http://purl.obolibrary.org/obo/CHEBI_27216 | urate(2-) |
| HP:0100710 | Impulsivity |
| HP:0002396 | Cogwheel rigidity |
| HP:0002390 | Spinal arteriovenous malformation |
| HP:0100717 | Abnormality of the cementum |
| HP:0100719 | Lens coloboma |
| http://purl.obolibrary.org/obo/CHEBI_30860 | methylmalonic acid |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0100718 | Uterine rupture |
| http://purl.obolibrary.org/obo/CHEBI_30861 | methylmalonate(1-) |
| HP:0002398 | Degeneration of anterior horn cells |
| http://purl.obolibrary.org/obo/CHEBI_27208 | unsaturated fatty acid |
| http://purl.obolibrary.org/obo/UBERON_0029503 | sacral spinal cord gray matter |
| http://purl.obolibrary.org/obo/CHEBI_30848 | urate(1-) |
| HP:0100701 | Abnormal pia mater |
| HP:0100704 | Cerebral visual impairment |
| HP:0100703 | Tongue thrusting |
| HP:0100708 | Abnormality of the microglia |
| HP:0100709 | Reduction of oligodendroglia |
| HP:0100706 | Abnormality of the oligodendroglia |
| http://purl.obolibrary.org/obo/CL_0002313 | endocrine-paracrine cell of prostate gland |
| HP:0004990 | Epiphyseal streaking |
| HP:0002330 | Paroxysmal drowsiness |
| HP:0004991 | Rhizomelic arm shortening |
| HP:0004997 | Multicentric ossification of proximal humeral epiphyses |
| HP:0002335 | Agenesis of cerebellar vermis |
| HP:0002332 | Lack of peer relationships |
| HP:0004993 | Slender long bones with narrow diaphyses |
| HP:0002331 | Recurrent paroxysmal headache |
| HP:0002333 | Motor deterioration |
| http://purl.obolibrary.org/obo/PR_P21589 | 5'-nucleotidase (human) |
| http://purl.obolibrary.org/obo/CHEBI_29888 | diphosphoric acid |
| http://purl.obolibrary.org/obo/CHEBI_27226 | uric acid |
| HP:0002341 | Cervical cord compression |
| HP:0002340 | Caudate atrophy |
| HP:0002343 | Normal pressure hydrocephalus |
| HP:0002342 | Intellectual disability, moderate |
| http://purl.obolibrary.org/obo/CL_0002339 | prostate stem cell |
| http://purl.obolibrary.org/obo/CL_0002338 | CD56-positive, CD161-positive immature natural killer cell |
| http://purl.obolibrary.org/obo/UBERON_0005568 | rhombomere 1 roof plate |
| http://purl.obolibrary.org/obo/UBERON_0005567 | rhombomere 1 lateral wall |
| HP:0002357 | Dysphasia |
| http://purl.obolibrary.org/obo/UBERON_0005565 | facio-acoustic neural crest |
| http://purl.obolibrary.org/obo/UBERON_0005564 | gonad primordium |
| HP:0002359 | Frequent falls |
| http://purl.obolibrary.org/obo/UBERON_0005563 | trigeminal neural crest |
| http://purl.obolibrary.org/obo/UBERON_0005562 | thymus primordium |
| HP:0002356 | Writer's cramp |
| HP:0002355 | Difficulty walking |
| http://purl.obolibrary.org/obo/MPATH_718 | pre-sacral teratoma |
| http://purl.obolibrary.org/obo/CL_0002327 | mammary gland epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002323 | amniocyte |
| http://purl.obolibrary.org/obo/CHEBI_27247 | urocanate |
| http://purl.obolibrary.org/obo/CHEBI_27248 | urocanic acid |
| HP:0002361 | Psychomotor deterioration |
| http://purl.obolibrary.org/obo/CL_0002332 | ciliated cell of the bronchus |
| http://purl.obolibrary.org/obo/CL_0002328 | bronchial epithelial cell |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002367 | Visual hallucinations |
| HP:0002366 | Abnormal lower motor neuron morphology |
| http://purl.obolibrary.org/obo/UBERON_0005502 | rhombomere roof plate |
| http://purl.obolibrary.org/obo/UBERON_0003054 | roof plate |
| http://purl.obolibrary.org/obo/UBERON_0005501 | rhombomere lateral wall |
| HP:0100792 | Acantholysis |
| HP:0100795 | Abnormally straight spine |
| HP:0100797 | Toenail dysplasia |
| http://purl.obolibrary.org/obo/CHEBI_78804 | Caenorhabditis elegans metabolite |
| HP:0100796 | Orchitis |
| HP:0100798 | Fingernail dysplasia |
| http://purl.obolibrary.org/obo/CHEBI_78803 | nematode metabolite |
| HP:0100780 | Conjunctival hamartoma |
| HP:0100784 | Peripheral arteriovenous fistula |
| HP:0100783 | Breast aplasia |
| HP:0100788 | Fused lips |
| HP:0100789 | Torus palatinus |
| HP:0100770 | Hyperperistalsis |
| HP:0100773 | Cartilage destruction |
| HP:0100775 | Dural ectasia |
| HP:0100776 | Recurrent pharyngitis |
| HP:0100779 | Urogenital sinus anomaly |
| HP:0100778 | Cryoglobulinemia |
| HP:0100760 | Clubbing of toes |
| HP:0100762 | Hemobilia |
| HP:0100761 | Visceral angiomatosis |
| HP:0100768 | Choriocarcinoma |
| http://purl.obolibrary.org/obo/CHEBI_17855 | triglyceride |
| HP:0100769 | Synovitis |
| http://purl.obolibrary.org/obo/CHEBI_17859 | glutaric acid |
| HP:0100750 | Atelectasis |
| HP:0100753 | Schizophrenia |
| HP:0100752 | Abnormal liver lobulation |
| HP:0100757 | Pancreatoblastoma |
| http://purl.obolibrary.org/obo/CHEBI_17823 | calcitriol |
| HP:0100759 | Clubbing of fingers |
| HP:0100758 | Gangrene |
| http://purl.obolibrary.org/obo/CHEBI_30807 | tetradecanoate |
| HP:0100746 | Macrodactyly of finger |
| HP:0100748 | Muscular edema |
| HP:0100747 | Macrodactyly of toe |
| http://purl.obolibrary.org/obo/GO_0032989 | cellular component morphogenesis |
| http://purl.obolibrary.org/obo/GO_0030323 | respiratory tube development |
| http://purl.obolibrary.org/obo/GO_0030324 | lung development |
| HP:0004906 | Hypernatremic dehydration |
| HP:0004909 | Hypokalemic hypochloremic metabolic alkalosis |
| HP:0004902 | Congenital lactic acidosis |
| HP:0004904 | Maturity-onset diabetes of the young |
| HP:0004905 | Low levels of vitamin A |
| http://purl.obolibrary.org/obo/UBERON_4300226 | forelimb bud mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_4300227 | hindlimb bud mesenchyme |
| HP:0004900 | Severe lactic acidosis |
| HP:0004901 | Exercise-induced lactic acidemia |
| http://www.informatics.jax.org/marker/MGI:2384966 | Mgat2 (mouse) |
| http://purl.obolibrary.org/obo/CL_0002359 | placental hematopoietic stem cell |
| http://purl.obolibrary.org/obo/CHEBI_88188 | drug allergen |
| http://purl.obolibrary.org/obo/CL_0002364 | cortical thymic epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002365 | medullary thymic epithelial cell |
| HP:0004955 | Generalized arterial tortuosity |
| http://purl.obolibrary.org/obo/CL_0002363 | keratocyte |
| http://purl.obolibrary.org/obo/GO_0019953 | sexual reproduction |
| HP:0004952 | Pulmonary arteriovenous fistulas |
| HP:0004968 | Recurrent cerebral hemorrhage |
| HP:0002307 | Drooling |
| HP:0004969 | Peripheral pulmonary artery stenosis |
| http://purl.obolibrary.org/obo/GO_0042373 | vitamin K metabolic process |
| http://purl.obolibrary.org/obo/CL_0002344 | CD56-negative, CD161-positive immature natural killer cell |
| http://purl.obolibrary.org/obo/CHEBI_30794 | malonic acid |
| http://purl.obolibrary.org/obo/CHEBI_30795 | malonate(1-) |
| http://purl.obolibrary.org/obo/CL_0002353 | fetal liver hematopoietic progenitor cell |
| HP:0004964 | Pulmonary arterial medial hypertrophy |
| http://purl.obolibrary.org/obo/CL_0002354 | yolk sac hematopoietic stem cell |
| HP:0002305 | Athetosis |
| HP:0004966 | Medial calcification of large arteries |
| http://purl.obolibrary.org/obo/CL_0002351 | progenitor cell of endocrine pancreas |
| HP:0002304 | Akinesia |
| HP:0002374 | Diminished movement |
| HP:0004960 | Absent pulmonary artery |
| http://purl.obolibrary.org/obo/CL_0002350 | endocardial cell |
| HP:0004961 | Pulmonary artery sling |
| HP:0002300 | Mutism |
| http://purl.obolibrary.org/obo/CHEBI_39150 | 4-oxopentanoate |
| http://purl.obolibrary.org/obo/GO_2001025 | positive regulation of response to drug |
| http://purl.obolibrary.org/obo/CL_0002377 | immature Schwann cell |
| http://purl.obolibrary.org/obo/GO_2001024 | negative regulation of response to drug |
| http://purl.obolibrary.org/obo/GO_2001023 | regulation of response to drug |
| http://purl.obolibrary.org/obo/GO_0042360 | vitamin E metabolic process |
| HP:0004975 | Erlenmeyer flask deformity of the femurs |
| HP:0002314 | Degeneration of the lateral corticospinal tracts |
| HP:0004977 | Bilateral radial aplasia |
| HP:0002310 | Orofacial dyskinesia |
| HP:0004971 | Pulmonary artery hypoplasia |
| HP:0004972 | Elevated mean arterial pressure |
| http://purl.obolibrary.org/obo/GO_0042359 | vitamin D metabolic process |
| HP:0002312 | Clumsiness |
| HP:0004974 | Coarctation of abdominal aorta |
| HP:0002329 | Drowsiness |
| http://purl.obolibrary.org/obo/CL_0002367 | trabecular meshwork cell |
| HP:0004980 | Metaphyseal rarefaction |
| HP:0004981 | Prominent styloid process of ulna |
| http://purl.obolibrary.org/obo/CL_0002375 | Schwann cell precursor |
| HP:0004987 | Mesomelic leg shortening |
| HP:0002324 | Hydranencephaly |
| HP:0002326 | Transient ischemic attack |
| HP:0004918 | Hyperchloremic metabolic acidosis |
| HP:0004919 | Galactose intolerance |
| HP:0004913 | Intermittent lactic acidemia |
| HP:0004914 | Recurrent infantile hypoglycemia |
| HP:0004915 | Impairment of galactose metabolism |
| HP:0004916 | Generalized distal tubular acidosis |
| HP:0004910 | Bicarbonate-wasting renal tubular acidosis |
| HP:0004911 | Episodic metabolic acidosis |
| HP:0004912 | Hypophosphatemic rickets |
| HP:0004924 | Abnormal oral glucose tolerance |
| HP:0004925 | Chronic lactic acidosis |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction |
| HP:0004920 | Phenylpyruvic acidemia |
| http://purl.obolibrary.org/obo/GO_0042322 | negative regulation of circadian sleep/wake cycle, REM sleep |
| http://purl.obolibrary.org/obo/GO_0042321 | negative regulation of circadian sleep/wake cycle, sleep |
| HP:0004922 | Atypical hyperphenylalaninemia |
| HP:0004923 | Hyperphenylalaninemia |
| http://purl.obolibrary.org/obo/GO_0030307 | positive regulation of cell growth |
| HP:0004935 | Pulmonary artery atresia |
| http://purl.obolibrary.org/obo/GO_0030308 | negative regulation of cell growth |
| HP:0004937 | Pulmonary artery aneurysm |
| HP:0004927 | Pulmonary artery dilatation |
| HP:0004938 | Tortuous cerebral arteries |
| HP:0004931 | Arteriosclerosis of small cerebral arteries |
| HP:0004933 | Ascending aortic dissection |
| http://purl.obolibrary.org/obo/GO_0030316 | osteoclast differentiation |
| http://purl.obolibrary.org/obo/GO_0030317 | flagellated sperm motility |
| http://purl.obolibrary.org/obo/MPATH_675 | psoriasiform dermatitis |
| HP:0004943 | Accelerated atherosclerosis |
| HP:0004945 | Extracranial internal carotid artery dissection |
| HP:0004940 | Generalized arterial calcification |
| HP:0004941 | Extrahepatic portal hypertension |
| http://purl.obolibrary.org/obo/UBERON_0005469 | right thymus lobe |
| http://purl.obolibrary.org/obo/CL_0002631 | epithelial cell of upper respiratory tract |
| HP:0100850 | Neoplasm of the penis |
| HP:0100853 | Hypoplastic areola |
| HP:0100855 | Triceps hypoplasia |
| HP:0100858 | Dilatation of celiac artery |
| HP:0002494 | Abnormal rapid eye movement sleep |
| HP:0100857 | Flat sella turcica |
| HP:0100859 | Dilatation of superior mesenteric artery |
| HP:0002491 | Spasticity of facial muscles |
| HP:0002490 | Increased CSF lactate |
| http://purl.obolibrary.org/obo/UBERON_0005467 | platysma |
| http://purl.obolibrary.org/obo/UBERON_0005465 | obturator nerve |
| http://purl.obolibrary.org/obo/UBERON_0005463 | subcapsular sinus of lymph node |
| HP:0002497 | Spastic ataxia |
| http://purl.obolibrary.org/obo/UBERON_0005462 | lower back |
| http://purl.obolibrary.org/obo/UBERON_0005461 | levator scapulae muscle |
| http://purl.obolibrary.org/obo/UBERON_0005460 | left vitelline vein |
| http://purl.obolibrary.org/obo/CL_0002623 | acinar cell of salivary gland |
| http://purl.obolibrary.org/obo/CL_1001596 | salivary gland glandular cell |
| http://purl.obolibrary.org/obo/CL_0002621 | gingival epithelial cell |
| HP:0100841 | Microgastria |
| HP:0100842 | Septo-optic dysplasia |
| HP:0100844 | Pancreatic fistula |
| HP:0100847 | Palmoplantar pustulosis |
| HP:0100849 | Neoplasm of the scrotum |
| http://purl.obolibrary.org/obo/UBERON_0005475 | sigmoid sinus |
| http://purl.obolibrary.org/obo/UBERON_0005473 | sacral region |
| http://purl.obolibrary.org/obo/UBERON_0005472 | right vitelline vein |
| http://purl.obolibrary.org/obo/CL_0002658 | glandular cell of the large intestine |
| http://purl.obolibrary.org/obo/CL_0002656 | glandular cell of endometrium |
| http://purl.obolibrary.org/obo/CL_1001591 | oviduct glandular cell |
| http://purl.obolibrary.org/obo/CL_0002657 | glandular cell of esophagus |
| HP:0100830 | Round ear |
| http://purl.obolibrary.org/obo/GO_0005730 | nucleolus |
| HP:0100838 | Recurrent cutaneous abscess formation |
| http://purl.obolibrary.org/obo/CHEBI_27570 | histidine |
| HP:0100837 | Atrophodermia vermiculata |
| HP:0100839 | Hepatic agenesis |
| http://purl.obolibrary.org/obo/UBERON_0005487 | vitelline vein |
| HP:0100821 | Urethrocele |
| HP:0100820 | Glomerulopathy |
| http://purl.obolibrary.org/obo/GO_0005720 | nuclear heterochromatin |
| http://purl.obolibrary.org/obo/UBERON_0005491 | glossopharyngeal neural crest |
| HP:0100822 | Rectocele |
| HP:0100672 | Vaginal hernia |
| HP:0100829 | Galactorrhea |
| HP:0100828 | Increased T cell count |
| http://purl.obolibrary.org/obo/UBERON_0005499 | rhombomere 1 |
| http://purl.obolibrary.org/obo/GO_0005719 | nuclear euchromatin |
| http://purl.obolibrary.org/obo/UBERON_0005498 | primitive heart tube |
| http://purl.obolibrary.org/obo/UBERON_0005496 | neural tube lateral wall |
| http://purl.obolibrary.org/obo/CL_0000018 | spermatid |
| http://purl.obolibrary.org/obo/UBERON_0005428 | vagal neural crest |
| http://purl.obolibrary.org/obo/CL_0002676 | neural crest derived neuroblast |
| http://purl.obolibrary.org/obo/UBERON_0005427 | corneal primordium |
| http://purl.obolibrary.org/obo/UBERON_0005426 | lens vesicle |
| http://purl.obolibrary.org/obo/CL_0000014 | germ line stem cell |
| http://purl.obolibrary.org/obo/UBERON_0005425 | presumptive neural retina |
| http://purl.obolibrary.org/obo/UBERON_0005424 | presumptive retinal pigmented epithelium |
| HP:0100810 | Pointed helix |
| http://purl.obolibrary.org/obo/GO_0005753 | mitochondrial proton-transporting ATP synthase complex |
| HP:0100814 | Blue nevus |
| http://purl.obolibrary.org/obo/GO_0005746 | mitochondrial respirasome |
| HP:0100813 | Testicular torsion |
| HP:0100816 | Lip hyperpigmentation |
| HP:0100818 | Long thorax |
| HP:0100817 | Renovascular hypertension |
| http://purl.obolibrary.org/obo/CHEBI_27594 | carbon atom |
| http://purl.obolibrary.org/obo/UBERON_0005422 | pelvic appendage apical ectodermal ridge |
| http://purl.obolibrary.org/obo/UBERON_0005421 | pectoral appendage apical ectodermal ridge |
| http://purl.obolibrary.org/obo/CL_0000020 | spermatogonium |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus |
| http://purl.obolibrary.org/obo/CL_0000008 | migratory cranial neural crest cell |
| http://purl.obolibrary.org/obo/CL_0000005 | fibroblast neural crest derived |
| http://purl.obolibrary.org/obo/UBERON_0005438 | coronary sinus |
| http://purl.obolibrary.org/obo/GO_0005740 | mitochondrial envelope |
| http://purl.obolibrary.org/obo/GO_0005743 | mitochondrial inner membrane |
| HP:0100801 | Pancreatic aplasia |
| HP:0002461 | Dense calcifications in the cerebellar dentate nucleus |
| HP:0100802 | Malposition of the stomach |
| HP:0100804 | Ungual fibroma |
| HP:0100826 | Neoplasm of the nail |
| http://purl.obolibrary.org/obo/CHEBI_27584 | aldosterone |
| http://purl.obolibrary.org/obo/GO_0005739 | mitochondrion |
| HP:0100809 | Scalp tenderness |
| HP:0100808 | Gastric diverticulum |
| http://purl.obolibrary.org/obo/CL_0002673 | tongue muscle cell |
| http://purl.obolibrary.org/obo/UBERON_0005432 | aortic sac |
| http://purl.obolibrary.org/obo/UBERON_0005430 | ansa cervicalis |
| HP:0002464 | Spastic dysarthria |
| HP:0002465 | Poor speech |
| http://purl.obolibrary.org/obo/CL_0000035 | single fate stem cell |
| http://purl.obolibrary.org/obo/UBERON_0005446 | foramen rotundum |
| http://purl.obolibrary.org/obo/GO_0005775 | vacuolar lumen |
| HP:0002470 | Nonprogressive cerebellar ataxia |
| http://purl.obolibrary.org/obo/UBERON_0005442 | abdominal external oblique muscle |
| http://purl.obolibrary.org/obo/CL_0000040 | monoblast |
| http://purl.obolibrary.org/obo/UBERON_0005440 | ductus arteriosus |
| http://purl.obolibrary.org/obo/UBERON_0005457 | left thymus lobe |
| http://purl.obolibrary.org/obo/UBERON_0005483 | thymus lobe |
| http://purl.obolibrary.org/obo/GO_0005761 | mitochondrial ribosome |
| HP:0002483 | Bulbar signs |
| http://purl.obolibrary.org/obo/GO_0005759 | mitochondrial matrix |
| http://purl.obolibrary.org/obo/UBERON_0005456 | jugular foramen |
| http://purl.obolibrary.org/obo/UBERON_0005454 | abdominal internal oblique muscle |
| HP:0002487 | Hyperkinetic movements |
| http://purl.obolibrary.org/obo/UBERON_0005409 | alimentary part of gastrointestinal system |
| http://purl.obolibrary.org/obo/UBERON_0005407 | sublingual ganglion |
| http://purl.obolibrary.org/obo/UBERON_0005404 | frontonasal suture |
| http://purl.obolibrary.org/obo/UBERON_0005403 | ventral striatum |
| http://purl.obolibrary.org/obo/UBERON_0005402 | philtrum |
| http://purl.obolibrary.org/obo/UBERON_0005400 | telencephalon arachnoid mater |
| http://purl.obolibrary.org/obo/UBERON_0005418 | hindlimb bud |
| http://purl.obolibrary.org/obo/UBERON_0005420 | pelvic appendage bud |
| http://purl.obolibrary.org/obo/UBERON_0005417 | forelimb bud |
| http://purl.obolibrary.org/obo/UBERON_0005419 | pectoral appendage bud |
| http://purl.obolibrary.org/obo/UBERON_0005413 | spinocerebellar tract |
| http://purl.obolibrary.org/obo/UBERON_0005412 | optic fissure |
| http://purl.obolibrary.org/obo/UBERON_0005411 | bony otic capsule |
| http://purl.obolibrary.org/obo/UBERON_0005410 | cartilaginous otic capsule |
| HP:0100890 | Cyst of the ductus choledochus |
| HP:0100891 | Bifid xiphoid process |
| HP:0100894 | Broad xiphoid process |
| HP:0100893 | Prominent xiphoid process |
| HP:0100892 | Abnormality of the xiphoid process |
| HP:0100896 | Rectal polyposis |
| HP:0100881 | Congenital mesoblastic nephroma |
| HP:0100883 | Chorangioma |
| HP:0100882 | Fibrous hamartoma |
| HP:0100885 | Lateral venous anomaly |
| HP:0100884 | Compensatory scoliosis |
| HP:0100889 | Abnormality of the ductus choledochus |
| HP:0100888 | Interdigital loops |
| http://purl.obolibrary.org/obo/CHEBI_15551 | prostaglandin E2 |
| http://purl.obolibrary.org/obo/CL_0002614 | neuron of the substantia nigra |
| http://purl.obolibrary.org/obo/CL_0002612 | neuron of the ventral spinal cord |
| http://purl.obolibrary.org/obo/CL_0002613 | striatum neuron |
| http://purl.obolibrary.org/obo/CL_0002610 | raphe nuclei neuron |
| HP:0100870 | Plantar telangiectasia |
| HP:0100874 | Thick hair |
| HP:0100876 | Infra-orbital crease |
| HP:0100875 | Hemimacroglossia |
| HP:0100878 | Enlarged uterus |
| HP:0100877 | Renal diverticulum |
| http://purl.obolibrary.org/obo/CL_0002603 | astrocyte of the cerebellum |
| http://purl.obolibrary.org/obo/CL_0002604 | astrocyte of the hippocampus |
| http://purl.obolibrary.org/obo/CL_1001580 | hippocampus glial cell |
| http://purl.obolibrary.org/obo/CL_0002602 | annulus pulposus cell |
| HP:0100861 | Sclerotic vertebral body |
| HP:0100860 | Dilatation of Inferior mesenteric artery |
| http://purl.obolibrary.org/obo/CL_0002607 | migratory enteric neural crest cell |
| HP:0100863 | Aplasia of the femoral neck |
| http://purl.obolibrary.org/obo/CL_0002608 | hippocampal neuron |
| http://purl.obolibrary.org/obo/CL_0002609 | neuron of cerebral cortex |
| http://purl.obolibrary.org/obo/CL_0012001 | neuron of the forebrain |
| HP:0100862 | Aplasia of the femoral head |
| http://purl.obolibrary.org/obo/CL_0002605 | astrocyte of the cerebral cortex |
| http://purl.obolibrary.org/obo/CL_0012000 | astrocyte of the forebrain |
| http://purl.obolibrary.org/obo/CL_1001579 | cerebral cortex glial cell |
| HP:0100865 | Broad ischia |
| HP:0100864 | Short femoral neck |
| http://purl.obolibrary.org/obo/CL_0002606 | astrocyte of the spinal cord |
| HP:0100867 | Duodenal stenosis |
| HP:0100866 | Short iliac bones |
| HP:0100869 | Palmar telangiectasia |
| http://purl.obolibrary.org/obo/PR_P08508 | low affinity immunoglobulin gamma Fc region receptor III (mouse) |
| http://purl.obolibrary.org/obo/GO_0042645 | mitochondrial nucleoid |
| http://purl.obolibrary.org/obo/GO_0042632 | cholesterol homeostasis |
| http://purl.obolibrary.org/obo/GO_0042627 | chylomicron |
| http://purl.obolibrary.org/obo/GO_0042613 | MHC class II protein complex |
| http://purl.obolibrary.org/obo/GO_0042611 | MHC protein complex |
| http://purl.obolibrary.org/obo/CHEBI_76413 | greenhouse gas |
| HP:0002416 | Subependymal cysts |
| HP:0002419 | Molar tooth sign on MRI |
| http://purl.obolibrary.org/obo/GO_0003010 | voluntary skeletal muscle contraction |
| http://purl.obolibrary.org/obo/PR_P08571 | monocyte differentiation antigen CD14 (human) |
| http://purl.obolibrary.org/obo/GO_0003009 | skeletal muscle contraction |
| HP:0002410 | Aqueductal stenosis |
| http://purl.obolibrary.org/obo/CL_0000047 | neuronal stem cell |
| HP:0002427 | Motor aphasia |
| HP:0002381 | Aphasia |
| HP:0002423 | Long-tract signs |
| HP:0002425 | Anarthria |
| HP:0002421 | Poor head control |
| HP:0002439 | Frontolimbic dementia |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5147 | HPD (human) |
| http://purl.obolibrary.org/obo/GO_0003016 | respiratory system process |
| HP:0002446 | Astrocytosis |
| HP:0002448 | Progressive encephalopathy |
| HP:0002442 | Dyscalculia |
| HP:0002444 | Hypothalamic hamartoma |
| http://purl.obolibrary.org/obo/UBERON_0005382 | dorsal striatum |
| http://purl.obolibrary.org/obo/UBERON_0005381 | dentate gyrus granule cell layer |
| http://purl.obolibrary.org/obo/GO_0042695 | thelarche |
| http://purl.obolibrary.org/obo/GO_0042696 | menarche |
| http://purl.obolibrary.org/obo/UBERON_0005384 | nasal cavity epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005383 | caudate-putamen |
| http://purl.obolibrary.org/obo/UBERON_0005397 | brain arachnoid mater |
| http://purl.obolibrary.org/obo/GO_0040019 | positive regulation of embryonic development |
| HP:0002408 | Cerebral arteriovenous malformation |
| HP:0002401 | Stroke-like episode |
| HP:0002404 | Thickened superior cerebellar peduncle |
| HP:0002403 | Positive Romberg sign |
| http://purl.obolibrary.org/obo/UBERON_0005343 | cortical plate |
| HP:0100960 | Asymmetric ventricles |
| HP:0100962 | Shyness |
| HP:0100961 | Enlarged hippocampus |
| HP:0100963 | Hyperesthesia |
| http://purl.obolibrary.org/obo/UBERON_0005352 | spermatic cord |
| http://purl.obolibrary.org/obo/PR_P47989 | xanthine dehydrogenase/oxidase (human) |
| http://purl.obolibrary.org/obo/CL_0002537 | amnion mesenchymal stem cell |
| http://purl.obolibrary.org/obo/CL_0002538 | intrahepatic bile duct epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002535 | epithelial cell of cervix |
| http://purl.obolibrary.org/obo/CL_0002536 | epithelial cell of amnion |
| HP:0100951 | Enlarged fossa interpeduncularis |
| HP:0100950 | Decreased 3-hydroxyacyl-CoA dehydrogenase level |
| HP:0100953 | Enlarged interhemispheric fissure |
| HP:0100952 | Enlarged sylvian cistern |
| HP:0100955 | Giant cell granuloma of mandible |
| HP:0100954 | Open operculum |
| http://purl.obolibrary.org/obo/GO_0005604 | basement membrane |
| HP:0100959 | Dense metaphyseal bands |
| HP:0100958 | Narrow foramen obturatorium |
| http://purl.obolibrary.org/obo/CL_0002541 | chorionic membrane mesenchymal stem cell |
| http://purl.obolibrary.org/obo/UBERON_0005366 | olfactory lobe |
| http://purl.obolibrary.org/obo/GO_1905083 | negative regulation of mitochondrial translational elongation |
| http://purl.obolibrary.org/obo/UBERON_0005363 | inferior vagus X ganglion |
| http://purl.obolibrary.org/obo/GO_1905084 | positive regulation of mitochondrial translational elongation |
| http://purl.obolibrary.org/obo/GO_1905082 | regulation of mitochondrial translational elongation |
| http://purl.obolibrary.org/obo/UBERON_0005362 | vagus X ganglion |
| http://purl.obolibrary.org/obo/UBERON_0005375 | spinal cord ventral column |
| http://purl.obolibrary.org/obo/UBERON_0005373 | spinal cord dorsal column |
| http://purl.obolibrary.org/obo/CL_0002559 | hair follicle cell |
| http://purl.obolibrary.org/obo/UBERON_0005309 | pronephric nephron |
| http://purl.obolibrary.org/obo/CL_0002557 | fibroblast of pulmonary artery |
| http://purl.obolibrary.org/obo/CL_0002555 | fibroblast of mammary gland |
| http://purl.obolibrary.org/obo/CL_0002554 | fibroblast of lymphatic vessel |
| HP:0002570 | Steatorrhea |
| http://purl.obolibrary.org/obo/CHEBI_27470 | folic acid |
| HP:0002572 | Episodic vomiting |
| HP:0002571 | Achalasia |
| HP:0002578 | Gastroparesis |
| HP:0002574 | Episodic abdominal pain |
| HP:0002573 | Hematochezia |
| HP:0002576 | Intussusception |
| HP:0002575 | Tracheo-oesophageal fistula |
| http://purl.obolibrary.org/obo/CL_0002549 | fibroblast of choroid plexus |
| http://purl.obolibrary.org/obo/UBERON_0005319 | mesonephric collecting duct |
| http://purl.obolibrary.org/obo/CL_0002546 | embryonic blood vessel endothelial progenitor cell |
| http://purl.obolibrary.org/obo/CL_0002547 | fibroblast of the aortic adventitia |
| http://purl.obolibrary.org/obo/UBERON_0005317 | pulmonary artery endothelium |
| http://purl.obolibrary.org/obo/UBERON_0005316 | endocardial endothelium |
| http://purl.obolibrary.org/obo/CHEBI_52425 | EC 3.2.1.18 (exo-alpha-sialidase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_52424 | EC 3.2.1.* (glycosidase) inhibitor |
| http://purl.obolibrary.org/obo/GO_0005622 | intracellular |
| HP:0002580 | Volvulus |
| http://purl.obolibrary.org/obo/GO_0005615 | extracellular space |
| HP:0100923 | Clavicular sclerosis |
| HP:0002582 | Chronic atrophic gastritis |
| http://purl.obolibrary.org/obo/CL_0002551 | fibroblast of dermis |
| http://purl.obolibrary.org/obo/CL_0002552 | fibroblast of gingiva |
| HP:0002588 | Duodenal ulcer |
| http://purl.obolibrary.org/obo/UBERON_0005311 | mammary placode |
| http://purl.obolibrary.org/obo/UBERON_0005310 | pronephric nephron tubule |
| http://purl.obolibrary.org/obo/CL_0002550 | fibroblast of the conjunctiva |
| HP:0002587 | Projectile vomiting |
| http://purl.obolibrary.org/obo/UBERON_0005328 | mesonephric comma-shaped body |
| http://purl.obolibrary.org/obo/UBERON_0005327 | mesonephric glomerular epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005326 | mesonephric glomerulus vasculature |
| http://purl.obolibrary.org/obo/UBERON_0005325 | mesonephric glomerulus |
| HP:0002592 | Gastric ulcer |
| HP:0002591 | Polyphagia |
| HP:0002594 | Pancreatic hypoplasia |
| HP:0100800 | Aplasia/Hypoplasia of the pancreas |
| HP:0002593 | Intestinal lymphangiectasia |
| HP:0002590 | Paralytic ileus |
| HP:0002599 | Head titubation |
| http://purl.obolibrary.org/obo/UBERON_0005323 | mesonephric mesenchyme |
| http://purl.obolibrary.org/obo/CL_0002585 | retinal blood vessel endothelial cell |
| http://purl.obolibrary.org/obo/UBERON_0005322 | mesonephric nephron |
| http://purl.obolibrary.org/obo/UBERON_0005321 | mesonephric smooth muscle tissue |
| http://purl.obolibrary.org/obo/CL_0002569 | mesenchymal stem cell of umbilical cord |
| http://purl.obolibrary.org/obo/UBERON_0005339 | outflow tract pulmonary component |
| http://purl.obolibrary.org/obo/UBERON_0005338 | outflow tract aortic component |
| http://purl.obolibrary.org/obo/GO_1905038 | regulation of membrane lipid metabolic process |
| http://purl.obolibrary.org/obo/CL_0002564 | nucleus pulposus cell of intervertebral disc |
| http://purl.obolibrary.org/obo/UBERON_0005334 | oral lamina propria |
| http://purl.obolibrary.org/obo/UBERON_0007997 | sesamoid bone of manus |
| http://purl.obolibrary.org/obo/UBERON_0005333 | mammary bud |
| http://purl.obolibrary.org/obo/CL_0002571 | hepatic mesenchymal stem cell |
| http://purl.obolibrary.org/obo/UBERON_0005332 | mesonephric S-shaped body |
| http://purl.obolibrary.org/obo/CL_0002572 | vertebral mesenchymal stem cell |
| http://purl.obolibrary.org/obo/UBERON_0005331 | mesonephric renal vesicle |
| http://purl.obolibrary.org/obo/UBERON_0005330 | mesonephric nephron epithelium |
| http://purl.obolibrary.org/obo/CHEBI_15428 | glycine |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=17291 | TMED1 (human) |
| http://purl.obolibrary.org/obo/CHEBI_64390 | N-hexanoylglycine |
| http://purl.obolibrary.org/obo/PATO_0045004 | normal affinity |
| http://purl.obolibrary.org/obo/PATO_0045009 | normal coiling |
| http://purl.obolibrary.org/obo/PATO_0045008 | normal cellular motility |
| http://purl.obolibrary.org/obo/PATO_0045007 | normal behavioural activity |
| http://purl.obolibrary.org/obo/PATO_0045088 | normal sensitivity of a process |
| http://purl.obolibrary.org/obo/PATO_0045087 | normal frequency |
| http://purl.obolibrary.org/obo/PATO_0045000 | normal rate |
| HP:0002533 | Abnormal posturing |
| HP:0002530 | Axial dystonia |
| HP:0002549 | Deficit in phonologic short-term memory |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication |
| http://purl.obolibrary.org/obo/CL_0002586 | retinal pigment epithelial cell |
| http://purl.obolibrary.org/obo/CHEBI_27389 | 3-aminoisobutyric acid |
| http://purl.obolibrary.org/obo/PATO_0045086 | normal occurrence |
| http://purl.obolibrary.org/obo/PATO_0045084 | normal duration |
| http://purl.obolibrary.org/obo/PATO_0045083 | normal wetness |
| http://purl.obolibrary.org/obo/PATO_0045077 | normal variability of size |
| HP:0002545 | Patchy demyelination of subcortical white matter |
| HP:0002544 | Retrocollis |
| HP:0002546 | Incomprehensible speech |
| HP:0002542 | Olivopontocerebellar atrophy |
| http://purl.obolibrary.org/obo/PATO_0045071 | normal tonicity |
| http://purl.obolibrary.org/obo/PR_P08473 | neprilysin (human) |
| http://purl.obolibrary.org/obo/GO_0005576 | extracellular region |
| http://purl.obolibrary.org/obo/PATO_0045073 | normal process quality |
| http://purl.obolibrary.org/obo/PATO_0045068 | normal tendency |
| http://purl.obolibrary.org/obo/PATO_0045066 | normal susceptibility toward |
| http://purl.obolibrary.org/obo/PATO_0045065 | normal fatigability |
| HP:0002555 | Absent pubic hair |
| HP:0002558 | Supernumerary nipple |
| http://purl.obolibrary.org/obo/CHEBI_66998 | histidinate derivative |
| HP:0002557 | Hypoplastic nipples |
| HP:0002552 | Trichodysplasia |
| HP:0002553 | Highly arched eyebrow |
| http://purl.obolibrary.org/obo/GO_0042593 | glucose homeostasis |
| http://purl.obolibrary.org/obo/PATO_0045060 | normal volume |
| http://purl.obolibrary.org/obo/PATO_0045064 | normal strength |
| http://purl.obolibrary.org/obo/PATO_0045061 | normal width |
| http://purl.obolibrary.org/obo/PATO_0045056 | normal anterior-posterior diameter |
| HP:0002561 | Absent nipple |
| http://purl.obolibrary.org/obo/PATO_0045055 | normal diameter |
| http://purl.obolibrary.org/obo/PATO_0045059 | normal thickness |
| http://purl.obolibrary.org/obo/PATO_0045058 | normal circumference |
| http://purl.obolibrary.org/obo/PATO_0045057 | normal perimeter |
| http://purl.obolibrary.org/obo/PATO_0045054 | normal length |
| HP:0002563 | Constrictive pericarditis |
| http://purl.obolibrary.org/obo/GO_0042589 | zymogen granule membrane |
| http://purl.obolibrary.org/obo/GO_0030667 | secretory granule membrane |
| http://purl.obolibrary.org/obo/GO_0030659 | cytoplasmic vesicle membrane |
| HP:0002562 | Low-set nipples |
| http://purl.obolibrary.org/obo/GO_0042588 | zymogen granule |
| http://purl.obolibrary.org/obo/GO_0042582 | azurophil granule |
| http://purl.obolibrary.org/obo/GO_0005766 | primary lysosome |
| http://purl.obolibrary.org/obo/GO_0005764 | lysosome |
| http://purl.obolibrary.org/obo/PATO_0045053 | normal height |
| http://purl.obolibrary.org/obo/PATO_0045052 | normal depth |
| http://purl.obolibrary.org/obo/PATO_0045050 | normal size |
| http://purl.obolibrary.org/obo/PATO_0045044 | normal pressure |
| http://purl.obolibrary.org/obo/PATO_0045049 | normal sensitivity toward |
| http://purl.obolibrary.org/obo/UBERON_0005269 | renal cortex vein |
| http://purl.obolibrary.org/obo/UBERON_0005268 | renal cortex artery |
| HP:0002508 | Brainstem dysplasia |
| HP:0002504 | Calcification of the small brain vessels |
| HP:0002507 | Semilobar holoprosencephaly |
| HP:0002506 | Diffuse cerebral atrophy |
| http://purl.obolibrary.org/obo/PATO_0045041 | normal angle to |
| http://purl.obolibrary.org/obo/PATO_0045040 | normal position |
| http://purl.obolibrary.org/obo/PATO_0045032 | normal mobility |
| http://purl.obolibrary.org/obo/PATO_0045038 | normal photosensitivity |
| HP:0002501 | Spasticity of pharyngeal muscles |
| http://purl.obolibrary.org/obo/UBERON_0005279 | nail bed of toe |
| http://purl.obolibrary.org/obo/UBERON_0005278 | nail bed of finger |
| http://purl.obolibrary.org/obo/UBERON_0005277 | dorsal skin of toe |
| http://purl.obolibrary.org/obo/UBERON_0030276 | lumbar spinal cord ventral horn |
| http://purl.obolibrary.org/obo/UBERON_0005276 | dorsal skin of finger |
| http://purl.obolibrary.org/obo/UBERON_0005273 | nail bed |
| http://purl.obolibrary.org/obo/UBERON_0005275 | dorsal skin of digit |
| HP:0002519 | Hypnagogic hallucinations |
| HP:0002516 | Increased intracranial pressure |
| HP:0002515 | Waddling gait |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7656 | NCAM1 (human) |
| http://purl.obolibrary.org/obo/PATO_0045031 | normal mass density |
| http://purl.obolibrary.org/obo/PATO_0045030 | normal mass |
| http://purl.obolibrary.org/obo/UBERON_0017261 | intertarsal sesamoid |
| http://purl.obolibrary.org/obo/PATO_0045024 | normal force |
| http://purl.obolibrary.org/obo/UBERON_0005282 | ventricular system of brain |
| http://purl.obolibrary.org/obo/UBERON_0005281 | ventricular system of central nervous system |
| http://purl.obolibrary.org/obo/PATO_0045021 | normal flexibility |
| http://purl.obolibrary.org/obo/PATO_0045028 | normal male fertility |
| http://purl.obolibrary.org/obo/PATO_0045026 | normal life span |
| http://purl.obolibrary.org/obo/CHEBI_138103 | inorganic acid |
| http://purl.obolibrary.org/obo/PATO_0045025 | normal fragility |
| HP:0002512 | Brain stem compression |
| HP:0002511 | Alzheimer disease |
| http://purl.obolibrary.org/obo/UBERON_0005289 | tela choroidea of telencephalic ventricle |
| http://purl.obolibrary.org/obo/UBERON_0005288 | tela choroidea of third ventricle |
| http://purl.obolibrary.org/obo/UBERON_0005287 | tela choroidea of fourth ventricle |
| http://purl.obolibrary.org/obo/UBERON_0005286 | tela choroidea of midbrain cerebral aqueduct |
| http://purl.obolibrary.org/obo/UBERON_0005283 | tela choroidea |
| HP:0002510 | Spastic tetraplegia |
| HP:0002527 | Falls |
| HP:0002526 | Deficit in nonword repetition |
| HP:0002528 | Granulovacuolar degeneration |
| http://purl.obolibrary.org/obo/PATO_0045020 | normal fertility |
| http://purl.obolibrary.org/obo/UBERON_0017271 | upper primary premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0017272 | lower primary premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0017269 | primary premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0005294 | gonadal ridge |
| http://purl.obolibrary.org/obo/PATO_0045013 | normal curvature |
| http://purl.obolibrary.org/obo/PATO_0045012 | normal coordination |
| http://purl.obolibrary.org/obo/PATO_0045010 | normal concentration |
| http://purl.obolibrary.org/obo/UBERON_0005290 | myelencephalon |
| http://purl.obolibrary.org/obo/PATO_0045016 | normal elasticity |
| http://purl.obolibrary.org/obo/UBERON_0005299 | prepuce of clitoris |
| HP:0002524 | Cataplexy |
| http://purl.obolibrary.org/obo/PATO_0045018 | normal female fertility |
| http://purl.obolibrary.org/obo/PATO_0045001 | normal object quality |
| http://purl.obolibrary.org/obo/UBERON_0005297 | testis sex cord |
| http://purl.obolibrary.org/obo/UBERON_0005296 | ovary sex cord |
| HP:0002521 | Hypsarrhythmia |
| HP:0012054 | Choroidal melanoma |
| HP:0012053 | Low serum calcifediol |
| HP:0012052 | Low serum calcitriol |
| HP:0012051 | Reactive hypoglycemia |
| HP:0012050 | Anasarca |
| http://purl.obolibrary.org/obo/UBERON_0005229 | lower leg epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005228 | upper arm epithelium |
| HP:0012059 | Lentigo maligna melanoma |
| HP:0012058 | Nodular melanoma |
| HP:0012057 | Superficial spreading melanoma |
| HP:0012055 | Ciliary body melanoma |
| HP:0000074 | Ureteropelvic junction obstruction |
| HP:0000072 | Hydroureter |
| HP:0000070 | Ureterocele |
| http://purl.obolibrary.org/obo/UBERON_0005225 | upper leg epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005222 | liver left lobe parenchyma |
| http://purl.obolibrary.org/obo/UBERON_0005221 | liver right lobe parenchyma |
| HP:0000076 | Vesicoureteral reflux |
| HP:0012065 | Multiple bony cystic lesions |
| HP:0012064 | Unicameral bone cyst |
| HP:0012063 | Aneurysmal bone cyst |
| HP:0012061 | Urinary excretion of sialylated oligosaccharides |
| HP:0012060 | Acral lentiginous melanoma |
| HP:0012056 | Cutaneous melanoma |
| http://purl.obolibrary.org/obo/UBERON_0005239 | basal plate metencephalon |
| HP:0012069 | Keratan sulfate excretion in urine |
| HP:0012068 | Aspartylglucosaminuria |
| HP:0012066 | Increased urinary disaccharide excretion |
| HP:0000085 | Horseshoe kidney |
| http://purl.obolibrary.org/obo/CHEBI_27780 | detergent |
| HP:0000081 | Duplicated collecting system |
| http://purl.obolibrary.org/obo/UBERON_0005236 | osseus labyrinth vestibule |
| http://purl.obolibrary.org/obo/UBERON_0005234 | optic eminence ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0005233 | medial-nasal process ectoderm |
| HP:0012076 | Borderline personality disorder |
| HP:0012074 | Tonic pupil |
| HP:0012070 | Chondroitin sulfate excretion in urine |
| http://purl.obolibrary.org/obo/UBERON_0005249 | metanephric renal pelvis |
| http://purl.obolibrary.org/obo/UBERON_0005248 | bulbus cordis myocardium |
| HP:0012079 | Abnormality of central motor conduction |
| HP:0012078 | Motor conduction block |
| HP:0012077 | Histrionic personality disorder |
| HP:0012075 | Personality disorder |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0000090 | Nephronophthisis |
| http://purl.obolibrary.org/obo/UBERON_0005243 | interventricular septum endocardium |
| HP:0012083 | Ubiquitin-positive cerebral inclusion bodies |
| HP:0012082 | Cerebellar Purkinje layer atrophy |
| HP:0012081 | Enlarged cerebellum |
| HP:0012080 | Cerebellar granular layer atrophy |
| http://purl.obolibrary.org/obo/CHEBI_25147 | mandelate |
| HP:0012088 | Abnormal urinary odor |
| http://purl.obolibrary.org/obo/UBERON_0005250 | stomatodeum gland |
| http://purl.obolibrary.org/obo/UBERON_0005251 | yolk sac cavity |
| HP:0012010 | EEG with frontal focal spike waves |
| HP:0012018 | EEG with temporal focal spikes |
| HP:0012017 | EEG with parietal focal spikes |
| http://purl.obolibrary.org/obo/CHEBI_50113 | androgen |
| HP:0012016 | EEG with occipital focal spikes |
| HP:0012015 | EEG with frontal focal spikes |
| HP:0012014 | EEG with central focal spikes |
| HP:0012013 | EEG with temporal focal spike waves |
| HP:0012012 | EEG with parietal focal spike waves |
| http://purl.obolibrary.org/obo/CHEBI_50114 | estrogen |
| HP:0012011 | EEG with occipital focal spike waves |
| HP:0002691 | Platybasia |
| HP:0000030 | Testicular gonadoblastoma |
| HP:0002690 | Large sella turcica |
| HP:0000031 | Epididymitis |
| HP:0012019 | Lens luxation |
| HP:0000039 | Epispadias |
| HP:0002695 | Symmetrical, oval parietal bone defects |
| HP:0000034 | Hydrocele testis |
| HP:0002697 | Parietal foramina |
| HP:0000033 | Ambiguous genitalia, male |
| HP:0012021 | Persistent patent ductus venosus |
| HP:0012028 | Hepatocellular adenoma |
| HP:0012027 | Laryngeal edema |
| HP:0012026 | Hyperornithinemia |
| HP:0012024 | Hypergalactosemia |
| HP:0012023 | Galactosuria |
| HP:0012022 | Congenital portosystemic venous shunt |
| http://purl.obolibrary.org/obo/GO_0005976 | polysaccharide metabolic process |
| HP:0000041 | Chordee |
| HP:0000042 | Absent external genitalia |
| HP:0000040 | Long penis |
| HP:0000049 | Shawl scrotum |
| HP:0000048 | Bifid scrotum |
| HP:0000046 | Scrotal hypoplasia |
| HP:0000044 | Hypogonadotropic hypogonadism |
| HP:0012030 | Increased urinary cortisol level |
| http://purl.obolibrary.org/obo/UBERON_0005207 | tonsil capsule |
| http://purl.obolibrary.org/obo/UBERON_0005205 | lamina propria of vagina |
| http://purl.obolibrary.org/obo/UBERON_0005204 | larynx submucosa gland |
| HP:0012039 | Descemet Membrane Folds |
| HP:0012038 | Corneal guttata |
| HP:0012037 | Pectoralis amyotrophy |
| HP:0012036 | Sternocleidomastoid amyotrophy |
| HP:0012035 | Steatocystoma multiplex |
| http://purl.obolibrary.org/obo/GO_0003353 | positive regulation of cilium movement |
| HP:0012033 | Sacral lipoma |
| http://purl.obolibrary.org/obo/GO_0003354 | negative regulation of cilium movement |
| HP:0000052 | Urethral atresia, male |
| HP:0000051 | Perineal hypospadias |
| http://purl.obolibrary.org/obo/UBERON_0005200 | thoracic mammary gland |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000054 | Micropenis |
| HP:0012042 | Aspirin-induced asthma |
| HP:0012040 | Corneal stromal edema |
| http://purl.obolibrary.org/obo/UBERON_0005219 | hindbrain subarachnoid space |
| http://purl.obolibrary.org/obo/UBERON_0005218 | diencephalon subarachnoid space |
| http://purl.obolibrary.org/obo/UBERON_0005217 | midbrain subarachnoid space |
| http://purl.obolibrary.org/obo/UBERON_0005216 | optic eminence surface ectoderm |
| HP:0012049 | Laryngeal dystonia |
| HP:0012048 | Oromandibular dystonia |
| HP:0012047 | Hemeralopia |
| HP:0012046 | Areflexia of upper limbs |
| HP:0012044 | Seesaw nystagmus |
| HP:0000063 | Fused labia minora |
| HP:0000064 | Hypoplastic labia minora |
| HP:0000061 | Ambiguous genitalia, female |
| HP:0000060 | Clitoral hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0005214 | inner renal medulla interstitium |
| http://purl.obolibrary.org/obo/UBERON_0005212 | Leydig cell region of testis |
| HP:0000067 | Urethral atresia, female |
| HP:0000068 | Urethral atresia |
| HP:0000066 | Labial hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0007806 | connecting stalk |
| http://purl.obolibrary.org/obo/UBERON_0007807 | connecting stalk vasculature |
| http://purl.obolibrary.org/obo/CHEBI_76761 | EC 3.2.* (glycosylase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_15740 | formate |
| http://purl.obolibrary.org/obo/UBERON_0007811 | craniocervical region |
| http://purl.obolibrary.org/obo/UBERON_0007812 | post-anal tail |
| http://purl.obolibrary.org/obo/CHEBI_15756 | hexadecanoic acid |
| http://purl.obolibrary.org/obo/UBERON_0007827 | external nose |
| http://purl.obolibrary.org/obo/CHEBI_15727 | carnosine |
| http://purl.obolibrary.org/obo/UBERON_0007831 | pectoral girdle skeleton |
| http://www.informatics.jax.org/marker/MGI:109440 | Ly6g (mouse) |
| HP:0012098 | Edema of the dorsum of feet |
| HP:0012097 | Intracranial dermoid cyst |
| HP:0012096 | Intracranial epidermoid cyst |
| HP:0012095 | Multiple joint dislocation |
| http://purl.obolibrary.org/obo/CHEBI_15792 | malonate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_25107 | magnesium atom |
| http://purl.obolibrary.org/obo/CHEBI_15778 | N-acyl-D-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_39745 | dihydrogenphosphate |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7154 | MME (human) |
| http://purl.obolibrary.org/obo/CL_0002087 | nongranular leukocyte |
| HP:0002608 | Celiac disease |
| HP:0002604 | Gastrointestinal telangiectasia |
| http://purl.obolibrary.org/obo/UBERON_3010200 | vasculature of respiratory integument |
| HP:0002601 | Paresis of extensor muscles of the big toe |
| http://purl.obolibrary.org/obo/CL_0002097 | cortical cell of adrenal gland |
| http://purl.obolibrary.org/obo/CL_1001601 | adrenal gland glandular cell |
| http://purl.obolibrary.org/obo/MPATH_196 | dermatitis |
| http://purl.obolibrary.org/obo/MPATH_197 | glomerulonephritis |
| http://purl.obolibrary.org/obo/MPATH_198 | immune mediated hemolytic anaemia |
| http://purl.obolibrary.org/obo/MPATH_195 | arthritis |
| http://purl.obolibrary.org/obo/MPATH_181 | fibrosis |
| http://purl.obolibrary.org/obo/MPATH_184 | sclerosis |
| http://purl.obolibrary.org/obo/MPATH_176 | connective tissue replacement |
| http://purl.obolibrary.org/obo/MPATH_175 | healing and repair process |
| http://purl.obolibrary.org/obo/MPATH_156 | parakeratosis |
| http://purl.obolibrary.org/obo/UBERON_0017163 | skin bony tubercle |
| http://purl.obolibrary.org/obo/UBERON_0005184 | hair medulla |
| http://purl.obolibrary.org/obo/CHEBI_25094 | lysine |
| http://purl.obolibrary.org/obo/MPATH_154 | hyperkeratosis |
| http://purl.obolibrary.org/obo/MPATH_149 | squamous hyperplasia |
| http://purl.obolibrary.org/obo/MPATH_602 | hyperplastic tissue |
| http://purl.obolibrary.org/obo/CL_0002001 | CD34-positive, CD38-positive granulocyte monocyte progenitor |
| HP:0002655 | Spondyloepiphyseal dysplasia |
| http://purl.obolibrary.org/obo/CL_0002002 | Kit-positive granulocyte monocyte progenitor |
| HP:0002654 | Multiple epiphyseal dysplasia |
| HP:0002657 | Spondylometaphyseal dysplasia |
| http://purl.obolibrary.org/obo/CL_0002000 | Kit-positive erythroid progenitor cell |
| HP:0002651 | Spondyloepimetaphyseal dysplasia |
| HP:0002653 | Bone pain |
| http://purl.obolibrary.org/obo/UBERON_0005185 | renal medulla collecting duct |
| HP:0002669 | Osteosarcoma |
| http://purl.obolibrary.org/obo/UBERON_0005195 | deferent duct vein |
| http://purl.obolibrary.org/obo/UBERON_0005192 | deferent duct artery |
| http://purl.obolibrary.org/obo/PR_P35918 | vascular endothelial growth factor receptor 2 (mouse) |
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0002667 | Nephroblastoma |
| http://purl.obolibrary.org/obo/UBERON_0005199 | cervical mammary gland |
| HP:0002661 | Painless fractures due to injury |
| http://purl.obolibrary.org/obo/UBERON_0005196 | spleen germinal center |
| http://purl.obolibrary.org/obo/CL_0002018 | CD71-negative, GlyA-positive orthochromatic erythroblast |
| http://purl.obolibrary.org/obo/CL_0002019 | Ly-76 high reticulocyte |
| http://purl.obolibrary.org/obo/CL_0002016 | CD71-low, GlyA-positive polychromatic erythroblast |
| http://purl.obolibrary.org/obo/CL_0002017 | Kit-negative, Ly-76 high orthochromatophilic erythroblasts |
| http://purl.obolibrary.org/obo/CL_0002014 | Kit-negative, Ly-76 high basophilic erythroblast |
| HP:0000019 | Urinary hesitancy |
| http://purl.obolibrary.org/obo/CL_0002015 | Kit-negative, Ly-76 high polychromatophilic erythroblast |
| http://purl.obolibrary.org/obo/MPATH_124 | infarct |
| http://purl.obolibrary.org/obo/MPATH_126 | growth and differentiation defect |
| http://purl.obolibrary.org/obo/CHEBI_62031 | polar amino acid zwitterion |
| HP:0002677 | Small foramen magnum |
| HP:0000016 | Urinary retention |
| http://purl.obolibrary.org/obo/CL_0002024 | Kit-positive megakaryocyte progenitor cell |
| HP:0002676 | Cloverleaf skull |
| HP:0000017 | Nocturia |
| http://purl.obolibrary.org/obo/CL_0002021 | GlyA-positive erythrocyte |
| http://purl.obolibrary.org/obo/CL_0002022 | Ly-76 high positive erythrocyte |
| HP:0002678 | Skull asymmetry |
| HP:0000012 | Urinary urgency |
| HP:0000013 | Hypoplasia of the uterus |
| http://purl.obolibrary.org/obo/CL_0002020 | GlyA-positive reticulocytes |
| http://purl.obolibrary.org/obo/CL_0002422 | enucleated reticulocyte |
| HP:0000011 | Neurogenic bladder |
| http://purl.obolibrary.org/obo/CL_0002009 | macrophage dendritic cell progenitor |
| http://purl.obolibrary.org/obo/GO_0030879 | mammary gland development |
| http://purl.obolibrary.org/obo/CL_0002005 | CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell |
| http://purl.obolibrary.org/obo/CL_0002006 | Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell |
| http://purl.obolibrary.org/obo/CL_0000050 | megakaryocyte-erythroid progenitor cell |
| http://purl.obolibrary.org/obo/GO_1905114 | cell surface receptor signaling pathway involved in cell-cell signaling |
| HP:0000029 | Testicular atrophy |
| http://purl.obolibrary.org/obo/CL_0002003 | CD34-positive, GlyA-negative erythroid progenitor cell |
| http://purl.obolibrary.org/obo/CL_0002004 | CD34-negative, GlyA-negative proerythroblast |
| HP:0012007 | Hallucinatory auras |
| HP:0012006 | Jamais vu |
| HP:0012005 | Deja vu |
| HP:0012004 | Mnemonic auras |
| HP:0012003 | Affective auras |
| HP:0012001 | EEG with generalized polyspikes |
| HP:0012000 | EEG with generalized spikes |
| HP:0002680 | J-shaped sella turcica |
| http://purl.obolibrary.org/obo/MPATH_120 | ecchymosis |
| http://purl.obolibrary.org/obo/MPATH_119 | hemorrhage and non-specified extravasation |
| HP:0002682 | Broad skull |
| HP:0012009 | EEG with central focal spike waves |
| HP:0012008 | Illusory auras |
| HP:0012002 | Experiential auras |
| HP:0002688 | Absent frontal sinuses |
| http://purl.obolibrary.org/obo/CL_0002012 | Kit-low proerythroblast |
| http://purl.obolibrary.org/obo/CL_0002013 | GlyA-positive basophillic erythroblast |
| HP:0000026 | Male hypogonadism |
| HP:0002684 | Thickened calvaria |
| HP:0000023 | Inguinal hernia |
| HP:0000024 | Prostatitis |
| HP:0000021 | Megacystis |
| http://purl.obolibrary.org/obo/GO_0030887 | positive regulation of myeloid dendritic cell activation |
| http://purl.obolibrary.org/obo/GO_0030889 | negative regulation of B cell proliferation |
| HP:0002614 | Hepatic periportal necrosis |
| http://purl.obolibrary.org/obo/CL_0002036 | Slamf1-positive multipotent progenitor cell |
| HP:0002616 | Aortic root aneurysm |
| http://purl.obolibrary.org/obo/MPATH_105 | circulatory disorder |
| http://purl.obolibrary.org/obo/GO_0030886 | negative regulation of myeloid dendritic cell activation |
| http://purl.obolibrary.org/obo/GO_0030885 | regulation of myeloid dendritic cell activation |
| http://purl.obolibrary.org/obo/UBERON_0005148 | metanephric S-shaped body |
| http://purl.obolibrary.org/obo/UBERON_0005147 | metanephric renal vesicle |
| http://purl.obolibrary.org/obo/CL_0002043 | CD34-positive, CD38-negative multipotent progenitor cell |
| http://purl.obolibrary.org/obo/UBERON_0005146 | metanephric nephron tubule |
| HP:0002613 | Biliary cirrhosis |
| HP:0002612 | Congenital hepatic fibrosis |
| http://purl.obolibrary.org/obo/CL_0002044 | Kit-positive, integrin beta7-high basophil mast progenitor cell |
| http://purl.obolibrary.org/obo/UBERON_0005145 | metanephric comma-shaped body |
| http://purl.obolibrary.org/obo/UBERON_0005144 | metanephric glomerular capillary |
| http://purl.obolibrary.org/obo/CL_0002029 | Fc-epsilon RIalpha-low mast cell progenitor |
| http://purl.obolibrary.org/obo/CL_0002027 | CD9-positive, CD41-positive megakaryocyte cell |
| HP:0002626 | Venous varicosities of celiac and mesenteric vessels |
| HP:0002619 | Varicose veins |
| http://purl.obolibrary.org/obo/CL_0002028 | basophil mast progenitor cell |
| HP:0002625 | Deep venous thrombosis |
| HP:0002627 | Right aortic arch with mirror image branching |
| http://purl.obolibrary.org/obo/GO_0030890 | positive regulation of B cell proliferation |
| http://purl.obolibrary.org/obo/GO_0030888 | regulation of B cell proliferation |
| http://purl.obolibrary.org/obo/CHEBI_49096 | 3-aminoisobutyrate |
| http://purl.obolibrary.org/obo/CL_0002034 | long term hematopoietic stem cell |
| http://purl.obolibrary.org/obo/CL_0002035 | Slamf1-negative multipotent progenitor cell |
| http://purl.obolibrary.org/obo/CL_0002033 | short term hematopoietic stem cell |
| http://purl.obolibrary.org/obo/CL_0002030 | Fc-epsilon RIalpha-high basophil progenitor cell |
| HP:0002639 | Budd-Chiari syndrome |
| HP:0002638 | Superficial thrombophlebitis |
| HP:0002632 | Low-to-normal blood pressure |
| HP:0002635 | Type IV atherosclerotic lesion |
| http://purl.obolibrary.org/obo/CL_0002064 | pancreatic acinar cell |
| http://purl.obolibrary.org/obo/CL_1001599 | pancreas exocrine glandular cell |
| HP:0002630 | Fat malabsorption |
| http://purl.obolibrary.org/obo/UBERON_0005171 | hepatic duct |
| HP:0002645 | Wormian bones |
| HP:0002642 | Arteriovenous fistulas of celiac and mesenteric vessels |
| HP:0004947 | Arteriovenous fistula |
| HP:0002641 | Peripheral thrombosis |
| HP:0012175 | Resistance to activated protein C |
| HP:0012174 | Glioblastoma multiforme |
| HP:0012173 | Orthostatic tachycardia |
| http://purl.obolibrary.org/obo/UBERON_0005109 | metanephric smooth muscle tissue |
| HP:0012172 | Stereotypical body rocking |
| HP:0012171 | Stereotypical hand wringing |
| HP:0012170 | Nail-biting |
| http://purl.obolibrary.org/obo/CHEBI_25017 | leucine |
| HP:0012178 | Reduced natural killer cell activity |
| HP:0012177 | Abnormal natural killer cell physiology |
| HP:0000196 | Lower lip pit |
| HP:0000193 | Bifid uvula |
| HP:0000191 | Accessory oral frenulum |
| HP:0000199 | Tongue nodules |
| http://purl.obolibrary.org/obo/UBERON_0007762 | metatarsophalangeal joint of pedal digit 5 |
| HP:0000198 | Absence of Stensen duct |
| HP:0012186 | Entrapment neuropathy of the ulnar nerve at elbow |
| HP:0012185 | Constrictive median neuropathy |
| HP:0012184 | Increased HDL cholesterol concentration |
| HP:0012183 | Hyperplastic colonic polyposis |
| HP:0012182 | Oropharyngeal squamous cell carcinoma |
| http://purl.obolibrary.org/obo/UBERON_0007778 | umbilical artery endothelium |
| HP:0012189 | Hodgkin lymphoma |
| HP:0012188 | Hyperemesis gravidarum |
| HP:0012187 | Increased erythrocyte protoporphyrin concentration |
| http://purl.obolibrary.org/obo/UBERON_0005115 | metanephric cortical collecting duct |
| http://purl.obolibrary.org/obo/UBERON_0005113 | metanephric cortex mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0007774 | secondary dentition |
| http://purl.obolibrary.org/obo/UBERON_0005111 | metanephric pyramid |
| http://purl.obolibrary.org/obo/UBERON_0007772 | scrotal sweat |
| http://purl.obolibrary.org/obo/UBERON_0005110 | metanephric nephron |
| http://purl.obolibrary.org/obo/UBERON_0007773 | scrotal sweat gland |
| HP:0012197 | Insulinoma |
| HP:0012196 | Cheyne-Stokes respiration |
| HP:0012195 | Irregular respiration |
| HP:0012194 | Episodic hemiplegia |
| HP:0012193 | Anaplastic large-cell lymphoma |
| HP:0012192 | Cutaneous T-cell lymphoma |
| HP:0012191 | B-cell lymphoma |
| HP:0012199 | Cluster headache |
| HP:0012198 | Juvenile colonic polyposis |
| http://purl.obolibrary.org/obo/PR_P23769 | PR:P23769 located_in GO:0005654 |
| http://purl.obolibrary.org/obo/UBERON_0005137 | metanephric capsule |
| http://purl.obolibrary.org/obo/UBERON_0005136 | metanephric glomerular endothelium |
| http://purl.obolibrary.org/obo/UBERON_0005135 | metanephric glomerular epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005134 | metanephric nephron epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005133 | metanephric glomerulus vasculature |
| http://purl.obolibrary.org/obo/PR_P33151 | cadherin-5 (human) |
| http://purl.obolibrary.org/obo/UBERON_0007723 | interphalangeal joint of manual digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0007724 | interphalangeal joint of pedal digit 1 |
| HP:0012139 | Granulocytic hypoplasia |
| HP:0012138 | Granulocytic hyperplasia |
| HP:0012137 | Abnormal number of granulocyte precursors |
| HP:0012136 | Dysplastic granulopoesis |
| HP:0012134 | Dysplastic erythropoesis |
| HP:0012133 | Erythroid hypoplasia |
| HP:0000151 | Aplasia of the uterus |
| http://purl.obolibrary.org/obo/UBERON_0032748 | sacral spinal cord ventral horn |
| HP:0000155 | Oral ulcer |
| HP:0000154 | Wide mouth |
| HP:0012142 | Pancreatic squamous cell carcinoma |
| http://purl.obolibrary.org/obo/UBERON_0007738 | metacarpophalangeal joint of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0007735 | metacarpophalangeal joint of manual digit 1 |
| HP:0012149 | Bilineage myelodysplasia |
| HP:0012148 | Multiple lineage myelodysplasia |
| HP:0012147 | Reduced quantity of Von Willebrand factor |
| HP:0000160 | Narrow mouth |
| http://purl.obolibrary.org/obo/CHEBI_37024 | 2-aminoadipic acid |
| HP:0000169 | Gingival fibromatosis |
| HP:0000166 | Severe periodontitis |
| HP:0012153 | Hypotriglyceridemia |
| HP:0012152 | Foveoschisis |
| HP:0012151 | Hemothorax |
| HP:0012150 | Single lineage myelodysplasia |
| http://purl.obolibrary.org/obo/UBERON_0007747 | metacarpophalangeal joint of manual digit 5 |
| http://purl.obolibrary.org/obo/CHEBI_37054 | 3-hydroxybutyrate |
| HP:0012156 | Hemophagocytosis |
| HP:0012155 | Decreased corneal sensation |
| HP:0012154 | Anhedonia |
| HP:0000171 | Microglossia |
| http://purl.obolibrary.org/obo/PR_P47774 | C-C chemokine receptor type 7 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0007744 | metacarpophalangeal joint of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0007741 | metacarpophalangeal joint of manual digit 3 |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000176 | Submucous cleft hard palate |
| HP:0012164 | Asterixis |
| HP:0012163 | Carotid artery dilatation |
| HP:0012162 | Common carotid artery dissection |
| HP:0012161 | External carotid artery dissection |
| http://purl.obolibrary.org/obo/GO_1905277 | negative regulation of epithelial tube formation |
| HP:0012160 | Intracranial internal carotid artery dissection |
| HP:0012159 | Internal carotid artery dissection |
| HP:0012158 | Carotid artery dissection |
| http://purl.obolibrary.org/obo/GO_1905278 | positive regulation of epithelial tube formation |
| http://purl.obolibrary.org/obo/GO_1905276 | regulation of epithelial tube formation |
| http://purl.obolibrary.org/obo/UBERON_0007759 | metatarsophalangeal joint of pedal digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0007756 | metatarsophalangeal joint of pedal digit 3 |
| HP:0012169 | Self-biting |
| HP:0012168 | Head-banging |
| HP:0012167 | Hair-pulling |
| HP:0012166 | Skin-picking |
| http://purl.obolibrary.org/obo/GO_0005886 | plasma membrane |
| HP:0000183 | Difficulty in tongue movements |
| HP:0000182 | Movement abnormality of the tongue |
| HP:0000180 | Lobulated tongue |
| http://purl.obolibrary.org/obo/UBERON_0007753 | metatarsophalangeal joint of pedal digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0007750 | metatarsophalangeal joint of pedal digit 1 |
| HP:0000188 | Short upper lip |
| http://purl.obolibrary.org/obo/CHEBI_27612 | hydantoin |
| http://purl.obolibrary.org/obo/UBERON_0007709 | superior cerebellar peduncle of pons |
| http://purl.obolibrary.org/obo/CHEBI_15611 | sarcosine |
| http://purl.obolibrary.org/obo/CHEBI_27638 | cobalt atom |
| http://purl.obolibrary.org/obo/PR_P21183 | interleukin-5 receptor subunit alpha (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_27622 | vanillylmandelate |
| http://purl.obolibrary.org/obo/CHEBI_15676 | allantoin |
| http://purl.obolibrary.org/obo/CHEBI_15641 | 5-methyltetrahydrofolic acid |
| http://www.informatics.jax.org/marker/MGI:109294 | Cd244 (mouse) |
| HP:0002707 | Palate telangiectasia |
| HP:0002708 | Prominent median palatal raphe |
| HP:0002705 | High, narrow palate |
| HP:0000189 | Narrow palate |
| HP:0002700 | Large foramen magnum |
| HP:0002699 | Abnormality of the foramen magnum |
| HP:0002714 | Downturned corners of mouth |
| http://www.informatics.jax.org/marker/MGI:88035 | Aox1 (mouse) |
| http://purl.obolibrary.org/obo/GO_0042756 | drinking behavior |
| HP:0002710 | Commissural lip pit |
| HP:0002711 | Exaggerated median tongue furrow |
| http://purl.obolibrary.org/obo/GO_0042754 | negative regulation of circadian rhythm |
| http://purl.obolibrary.org/obo/GO_0042755 | eating behavior |
| HP:0002729 | Follicular hyperplasia |
| HP:0002725 | Systemic lupus erythematosus |
| HP:0002724 | Recurrent Aspergillus infections |
| HP:0002726 | Recurrent Staphylococcus aureus infections |
| http://purl.obolibrary.org/obo/GO_0042747 | circadian sleep/wake cycle, REM sleep |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7045 | MGAT2 (human) |
| http://purl.obolibrary.org/obo/GO_0042745 | circadian sleep/wake cycle |
| HP:0002723 | Absence of bactericidal oxidative respiratory burst in phagocytes |
| HP:0002722 | Recurrent abscess formation |
| http://purl.obolibrary.org/obo/GO_0042742 | defense response to bacterium |
| http://purl.obolibrary.org/obo/UBERON_3000982 | tail external integument structure |
| http://purl.obolibrary.org/obo/GO_0042730 | fibrinolysis |
| http://purl.obolibrary.org/obo/UBERON_3000972 | head external integument structure |
| http://purl.obolibrary.org/obo/UBERON_3000977 | body external integument structure |
| http://purl.obolibrary.org/obo/GO_0042713 | sperm ejaculation |
| http://purl.obolibrary.org/obo/GO_0042703 | menstruation |
| http://purl.obolibrary.org/obo/MPATH_287 | islet cell adenoma |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9666 | PTPRC (human) |
| HP:0000117 | Renal phosphate wasting |
| http://purl.obolibrary.org/obo/UBERON_0005062 | neural fold |
| http://purl.obolibrary.org/obo/UBERON_0005061 | neural groove |
| http://purl.obolibrary.org/obo/MPATH_270 | adenoma |
| http://purl.obolibrary.org/obo/MPATH_556 | potentially cancerous lesions |
| http://purl.obolibrary.org/obo/MPATH_267 | glandular tumor |
| HP:0000113 | Polycystic kidney dysplasia |
| http://purl.obolibrary.org/obo/UBERON_0005068 | neural rod |
| http://purl.obolibrary.org/obo/CHEBI_64554 | tryptophan zwitterion |
| HP:0002777 | Tracheal stenosis |
| HP:0000111 | Renal juxtaglomerular cell hypertrophy/hyperplasia |
| http://purl.obolibrary.org/obo/UBERON_0005066 | right ventricular trabecular myocardium |
| HP:0000112 | Nephropathy |
| http://purl.obolibrary.org/obo/CHEBI_64558 | methionine zwitterion |
| http://purl.obolibrary.org/obo/UBERON_0005064 | left ventricular trabecular myocardium |
| HP:0000128 | Renal potassium wasting |
| HP:0012106 | Rhizomelic leg shortening |
| HP:0012105 | Occipital cortical atrophy |
| HP:0012104 | Parietal cortical atrophy |
| HP:0012101 | Decreased serum creatinine |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9606 | PTH (human) |
| HP:0012109 | Angle closure glaucoma |
| HP:0012108 | Open angle glaucoma |
| HP:0012107 | Increased fibular diameter |
| HP:0002787 | Tracheal calcification |
| HP:0000126 | Hydronephrosis |
| HP:0002786 | Tracheobronchomalacia |
| HP:0002780 | Bronchomalacia |
| HP:0000127 | Renal salt wasting |
| HP:0000125 | Pelvic kidney |
| HP:0000122 | Unilateral renal agenesis |
| http://purl.obolibrary.org/obo/UBERON_0005076 | hindbrain-spinal cord boundary |
| http://purl.obolibrary.org/obo/UBERON_0005075 | forebrain-midbrain boundary |
| HP:0000139 | Uterine prolapse |
| HP:0100823 | Genital hernia |
| HP:0012117 | Hyperalbuminemia |
| HP:0012114 | Endometrial carcinoma |
| HP:0012113 | Abnormal circulating creatine concentration |
| HP:0002790 | Neonatal breathing dysregulation |
| http://purl.obolibrary.org/obo/CHEBI_64570 | EC 2.1.2.1 (glycine hydroxymethyltransferase) inhibitor |
| HP:0002792 | Reduced vital capacity |
| http://purl.obolibrary.org/obo/UBERON_0005081 | ureter ureteric bud |
| http://purl.obolibrary.org/obo/UBERON_0005080 | metanephric ureteric bud |
| http://purl.obolibrary.org/obo/CHEBI_64571 | NMDA receptor agonist |
| http://purl.obolibrary.org/obo/CHEBI_50103 | excitatory amino acid agonist |
| HP:0012119 | Methemoglobinemia |
| HP:0012118 | Laryngeal carcinoma |
| http://purl.obolibrary.org/obo/CHEBI_64577 | flour treatment agent |
| HP:0000136 | Bifid uterus |
| http://purl.obolibrary.org/obo/UBERON_0005089 | sweat gland placode |
| http://purl.obolibrary.org/obo/UBERON_0005088 | sebaceous gland placode |
| HP:0000134 | Female hypogonadism |
| http://purl.obolibrary.org/obo/UBERON_0005087 | tooth placode |
| HP:0000131 | Uterine leiomyoma |
| http://purl.obolibrary.org/obo/UBERON_0005086 | hair follicle placode |
| HP:0000132 | Menorrhagia |
| HP:0012120 | Methylmalonic aciduria |
| HP:0012128 | Basal ganglia necrosis |
| HP:0012127 | Uraciluria |
| HP:0012126 | Stomach cancer |
| HP:0012125 | Prostate cancer |
| HP:0100787 | Prostate neoplasm |
| HP:0012124 | Intermediate uveitis |
| HP:0012123 | Posterior uveitis |
| HP:0012121 | Panuveitis |
| http://purl.obolibrary.org/obo/UBERON_0005095 | kidney rudiment |
| http://purl.obolibrary.org/obo/CHEBI_64584 | uremic toxin |
| http://purl.obolibrary.org/obo/UBERON_0005092 | right horn of sinus venosus |
| HP:0012129 | Abnormality of bone marrow stromal cells |
| http://purl.obolibrary.org/obo/CHEBI_64588 | glycine transporter 1 inhibitor |
| HP:0000148 | Vaginal atresia |
| http://purl.obolibrary.org/obo/CHEBI_64589 | glycine receptor agonist |
| HP:0000149 | Ovarian gonadoblastoma |
| HP:0000150 | Gonadoblastoma |
| HP:0000145 | Transverse vaginal septum |
| HP:0000143 | Rectovaginal fistula |
| http://purl.obolibrary.org/obo/UBERON_1000006 | collection of hair on forehead |
| HP:0002738 | Hypoplastic frontal sinuses |
| HP:0002737 | Thick skull base |
| http://purl.obolibrary.org/obo/UBERON_1000004 | collection of hair on external ear |
| http://purl.obolibrary.org/obo/UBERON_0005028 | mucosa of maxillary sinus |
| HP:0002732 | Lymph node hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0005027 | mucosa of frontal sinus |
| http://purl.obolibrary.org/obo/UBERON_0007689 | thyroid diverticulum |
| HP:0002731 | Decreased lymphocyte apoptosis |
| http://purl.obolibrary.org/obo/UBERON_0005025 | mucosa of uvula |
| http://purl.obolibrary.org/obo/UBERON_0007687 | kidney field |
| http://purl.obolibrary.org/obo/UBERON_0005024 | mucosa of soft palate |
| http://purl.obolibrary.org/obo/UBERON_0007684 | uriniferous tubule |
| http://purl.obolibrary.org/obo/UBERON_0005022 | mucosa of nasopharynx |
| HP:0002730 | Chronic noninfectious lymphadenopathy |
| http://purl.obolibrary.org/obo/UBERON_0005021 | mucosa of sphenoidal sinus |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| http://purl.obolibrary.org/obo/GO_1905213 | negative regulation of mitotic chromosome condensation |
| HP:0002749 | Osteomalacia |
| http://purl.obolibrary.org/obo/UBERON_0007691 | gustatory pore |
| http://purl.obolibrary.org/obo/UBERON_0005030 | mucosa of paranasal sinus |
| http://purl.obolibrary.org/obo/UBERON_0007690 | early pharyngeal endoderm |
| HP:0002742 | Recurrent Klebsiella infections |
| http://purl.obolibrary.org/obo/PR_000020347 | integrin beta-7, signal peptide removed form |
| HP:0002745 | Oral leukoplakia |
| HP:0002744 | Bilateral cleft lip and palate |
| http://purl.obolibrary.org/obo/UBERON_0005033 | mucosa of gallbladder |
| HP:0002741 | Recurrent Serratia marcescens infections |
| HP:0002740 | Recurrent E. coli infections |
| http://purl.obolibrary.org/obo/UBERON_1000024 | parenchyma of spleen |
| http://purl.obolibrary.org/obo/MPATH_201 | vasculitis |
| http://purl.obolibrary.org/obo/MPATH_212 | inflammation |
| http://purl.obolibrary.org/obo/PR_P11836 | B-lymphocyte antigen CD20 (human) |
| http://purl.obolibrary.org/obo/UBERON_0005040 | mucosa of terminal bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0005039 | mucosa of bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0005049 | mucosa of infundibulum of uterine tube |
| http://purl.obolibrary.org/obo/UBERON_0005047 | mucosa of vocal fold |
| HP:0002756 | Pathologic fracture |
| http://purl.obolibrary.org/obo/UBERON_0005046 | mucosa of hard palate |
| http://purl.obolibrary.org/obo/UBERON_0005045 | mucosa of ethmoidal sinus |
| http://purl.obolibrary.org/obo/UBERON_0005044 | mucosa of pharyngotympanic tube |
| http://purl.obolibrary.org/obo/UBERON_0005026 | mucosa of middle ear |
| http://purl.obolibrary.org/obo/UBERON_1000020 | collection of hair on snout |
| HP:0002752 | Sparse bone trabeculae |
| HP:0100671 | Abnormal trabecular bone morphology |
| http://purl.obolibrary.org/obo/UBERON_0005042 | inner epithelial layer of tympanic membrane |
| HP:0000108 | Renal corticomedullary cysts |
| http://purl.obolibrary.org/obo/UBERON_1000015 | skin of snout |
| http://purl.obolibrary.org/obo/UBERON_0005051 | mediastinum testis |
| HP:0002764 | Stippled chondral calcification |
| HP:0000105 | Enlarged kidney |
| HP:0000103 | Polyuria |
| HP:0002766 | Relatively short spine |
| http://purl.obolibrary.org/obo/UBERON_0005056 | external female genitalia |
| HP:0002761 | Generalized joint laxity |
| HP:0012296 | Slender distal phalanx of finger |
| HP:0012295 | Slender middle phalanx of finger |
| HP:0012292 | Fusion of gums |
| http://purl.obolibrary.org/obo/MPATH_429 | myxomatous tumor |
| http://purl.obolibrary.org/obo/UBERON_0007646 | endomeninx |
| http://purl.obolibrary.org/obo/UBERON_0007647 | ectomeninx |
| http://purl.obolibrary.org/obo/CHEBI_76924 | plant metabolite |
| HP:0012299 | Long distal phalanx of finger |
| http://purl.obolibrary.org/obo/CHEBI_50315 | chloronium |
| HP:0012298 | Long middle phalanx of finger |
| http://purl.obolibrary.org/obo/CHEBI_49323 | contraceptive drug |
| HP:0012297 | Slender proximal phalanx of finger |
| http://purl.obolibrary.org/obo/UBERON_0007641 | trigeminal nuclear complex |
| http://purl.obolibrary.org/obo/CHEBI_50326 | sulfanylmethyl group |
| http://purl.obolibrary.org/obo/CHEBI_25362 | elemental molecule |
| http://purl.obolibrary.org/obo/UBERON_0007652 | esophageal sphincter |
| http://purl.obolibrary.org/obo/UBERON_0005006 | mucosa of renal pelvis |
| http://purl.obolibrary.org/obo/CHEBI_50330 | 2-amino-2-oxoethyl group |
| http://purl.obolibrary.org/obo/MPATH_404 | soft tissue tumor |
| http://purl.obolibrary.org/obo/CHEBI_50331 | 3-amino-3-oxopropyl group |
| http://purl.obolibrary.org/obo/CHEBI_50336 | 4-hydroxybenzyl group |
| http://purl.obolibrary.org/obo/CHEBI_50337 | 1H-indol-3-ylmethyl group |
| http://purl.obolibrary.org/obo/CHEBI_50329 | 2-carboxyethyl group |
| http://purl.obolibrary.org/obo/UBERON_0005005 | mucosa of left ureter |
| http://purl.obolibrary.org/obo/UBERON_0005004 | mucosa of right ureter |
| http://purl.obolibrary.org/obo/UBERON_0005003 | mucosa of left hepatic duct |
| http://purl.obolibrary.org/obo/UBERON_0005002 | mucosa of right hepatic duct |
| http://purl.obolibrary.org/obo/UBERON_0005001 | mucosa of common hepatic duct |
| http://purl.obolibrary.org/obo/UBERON_0005000 | mucosa of common bile duct |
| http://purl.obolibrary.org/obo/UBERON_2001073 | axial vasculature |
| http://purl.obolibrary.org/obo/CHEBI_50340 | 3-carbamimidamidopropyl group |
| http://purl.obolibrary.org/obo/UBERON_0005019 | mucosa of palate |
| http://purl.obolibrary.org/obo/UBERON_0005018 | mucosa of nasal septum |
| http://purl.obolibrary.org/obo/UBERON_0005017 | mucosa of lacrimal sac |
| http://purl.obolibrary.org/obo/UBERON_0005043 | mucosa of nasolacrimal duct |
| http://purl.obolibrary.org/obo/CHEBI_50341 | 1-hydroxyethyl group |
| http://purl.obolibrary.org/obo/CHEBI_50338 | 1H-imidazol-4-ylmethyl group |
| http://purl.obolibrary.org/obo/CHEBI_50339 | 4-aminobutyl group |
| http://purl.obolibrary.org/obo/UBERON_0005014 | mucosa of female urethra |
| http://purl.obolibrary.org/obo/UBERON_0005013 | mucosa of male urethra |
| http://purl.obolibrary.org/obo/UBERON_0005012 | mucosa of left uterine tube |
| http://purl.obolibrary.org/obo/UBERON_0005011 | mucosa of right uterine tube |
| http://purl.obolibrary.org/obo/UBERON_0005048 | mucosa of uterine tube |
| http://purl.obolibrary.org/obo/UBERON_0005010 | mucosa of neck of urinary bladder |
| HP:0012251 | ST segment elevation |
| HP:0012250 | ST segment depression |
| http://purl.obolibrary.org/obo/UBERON_0007602 | stratified columnar epithelium |
| HP:0012259 | Absent inner and outer dynein arms |
| HP:0012258 | Abnormal axonemal organization of respiratory motile cilia |
| HP:0012257 | Absent inner dynein arms |
| HP:0012256 | Absent outer dynein arms |
| HP:0012254 | Ewing sarcoma |
| HP:0000272 | Malar flattening |
| HP:0000273 | Facial grimacing |
| http://purl.obolibrary.org/obo/CL_0002200 | oxyphil cell of thyroid |
| http://purl.obolibrary.org/obo/CHEBI_37397 | chondroitin sulfate |
| HP:0000276 | Long face |
| HP:0000275 | Narrow face |
| HP:0012263 | Immotile cilia |
| http://purl.obolibrary.org/obo/UBERON_2001053 | future internal carotid artery |
| HP:0012260 | Abnormal central microtubular pair morphology of respiratory motile cilia |
| http://purl.obolibrary.org/obo/UBERON_0007618 | synovial cavity of hip joint |
| http://purl.obolibrary.org/obo/UBERON_0007617 | synovial cavity of joint |
| HP:0012268 | Myxoid liposarcoma |
| HP:0012034 | Liposarcoma |
| HP:0012267 | Absent respiratory ciliary axoneme radial spokes |
| HP:0012266 | T-wave alternans |
| HP:0012265 | Ciliary dyskinesia |
| HP:0012262 | Abnormal ciliary motility |
| HP:0012264 | Absent central microtubular pair morphology of respiratory motile cilia |
| HP:0000283 | Broad face |
| HP:0100729 | Large face |
| HP:0000289 | Broad philtrum |
| HP:0000287 | Increased facial adipose tissue |
| HP:0012274 | Autosomal dominant inheritance with paternal imprinting |
| HP:0012273 | Increased carotid artery intimal medial thickness |
| HP:0012272 | J wave |
| HP:0012271 | Episodic upper airway obstruction |
| HP:0002781 | Upper airway obstruction |
| HP:0012270 | Decreased muscle glycogen content |
| HP:0012279 | Hyposerinemia |
| HP:0012277 | Hypoglycinemia |
| HP:0012276 | Digital flexor tenosynovitis |
| HP:0012275 | Autosomal dominant inheritance with maternal imprinting |
| HP:0000294 | Low anterior hairline |
| HP:0000295 | Doll-like facies |
| HP:0000293 | Full cheeks |
| HP:0000298 | Mask-like facies |
| HP:0000297 | Facial hypotonia |
| HP:0012284 | Small proximal tibial epiphyses |
| HP:0012283 | Small distal femoral epiphysis |
| HP:0012282 | Morbilliform rash |
| HP:0012281 | Chylous ascites |
| HP:0012280 | Hepatic amyloidosis |
| http://purl.obolibrary.org/obo/CL_0002209 | intermediate epitheliocyte |
| HP:0012287 | Hypothalamic luteinizing hormone-releasing hormone deficiency |
| http://zfin.org/action/marker/view/ZDB-GENE-030131-1577 | prom1a (zebrafish) |
| http://purl.obolibrary.org/obo/CHEBI_74345 | 1-(5-hydroxy-2-oxo-2,3-dihydroimidazol-4-yl)urea |
| http://purl.obolibrary.org/obo/CHEBI_86327 | antifungal drug |
| http://purl.obolibrary.org/obo/CHEBI_74337 | D-asparagine zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_15999 | (4-hydroxyphenyl)pyruvic acid |
| http://purl.obolibrary.org/obo/CHEBI_15966 | D-glutamic acid |
| http://purl.obolibrary.org/obo/CHEBI_15963 | ribitol |
| http://purl.obolibrary.org/obo/CHEBI_76971 | Escherichia coli metabolite |
| http://purl.obolibrary.org/obo/CHEBI_76967 | human xenobiotic metabolite |
| http://purl.obolibrary.org/obo/CHEBI_76206 | xenobiotic metabolite |
| http://purl.obolibrary.org/obo/CHEBI_76956 | Aspergillus metabolite |
| http://purl.obolibrary.org/obo/CHEBI_25354 | mineralocorticoid |
| http://purl.obolibrary.org/obo/CHEBI_25355 | mitochondrial respiratory-chain inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76928 | 2,3-saturated fatty acid(1-) |
| http://purl.obolibrary.org/obo/CHEBI_76929 | 2,3-saturated fatty acid |
| HP:0002816 | Genu recurvatum |
| HP:0002812 | Coxa vara |
| http://purl.obolibrary.org/obo/CHEBI_15903 | beta-D-glucose |
| HP:0002810 | Dumbbell-shaped metaphyses |
| HP:0002828 | Multiple joint contractures |
| HP:0002826 | Halberd-shaped pelvis |
| HP:0002825 | Caudal appendage |
| HP:0002822 | Hyperplasia of the femoral trochanters |
| HP:0002821 | Neuropathic arthropathy |
| HP:0002839 | Urinary bladder sphincter dysfunction |
| HP:0002835 | Aspiration |
| HP:0002834 | Flared femoral metaphysis |
| http://purl.obolibrary.org/obo/PR_000029055 | Saccharomyces cerevisiae protein |
| HP:0002836 | Bladder exstrophy |
| HP:0002831 | Long coccyx |
| HP:0002833 | Cystic angiomatosis of bone |
| HP:0012062 | Bone cyst |
| HP:0002832 | Calcific stippling |
| HP:0002849 | Absence of lymph node germinal center |
| HP:0002848 | Decreased specific anti-polysaccharide antibody level |
| HP:0002847 | Impaired memory B cell generation |
| HP:0002842 | Recurrent Burkholderia cepacia infections |
| HP:0002840 | Lymphadenitis |
| HP:0002805 | Accelerated bone age after puberty |
| HP:0002804 | Arthrogryposis multiplex congenita |
| http://purl.obolibrary.org/obo/CL_0002236 | basal epithelial cell of prostatic duct |
| http://purl.obolibrary.org/obo/CL_0002341 | basal cell of prostate epithelium |
| HP:0012216 | Entrapment neuropathy of suprascapular nerve |
| HP:0012181 | Entrapment neuropathy |
| HP:0012215 | Testicular microlithiasis |
| HP:0012214 | Increased glomerular filtration rate |
| HP:0012213 | Decreased glomerular filtration rate |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=7315 | MS4A1 (human) |
| HP:0012212 | Abnormal glomerular filtration rate |
| http://purl.obolibrary.org/obo/MPATH_387 | odontoma |
| HP:0002891 | Uterine leiomyosarcoma |
| HP:0012219 | Erythema nodosum |
| HP:0012218 | Alveolar soft part sarcoma |
| HP:0012217 | Increased urinary porphobilinogen |
| HP:0002897 | Benign neoplasm: Parathyroid gland |
| HP:0000237 | Small anterior fontanelle |
| http://purl.obolibrary.org/obo/CL_0002241 | pulmonary interstitial fibroblast |
| HP:0000232 | Everted lower lip vermilion |
| http://purl.obolibrary.org/obo/CL_0002240 | marrow fibroblast |
| HP:0002895 | Papillary thyroid carcinoma |
| HP:0000230 | Gingivitis |
| http://purl.obolibrary.org/obo/CL_0002224 | lens epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002222 | vertebrate lens cell |
| HP:0012225 | Oligodontia of primary teeth |
| HP:0012224 | Circulating immune complexes |
| http://purl.obolibrary.org/obo/PR_P08101 | low affinity immunoglobulin gamma Fc region receptor II (mouse) |
| HP:0012223 | Splenic rupture |
| http://purl.obolibrary.org/obo/UBERON_0020550 | auricular blood vessel |
| HP:0012222 | Arachnoid hemangiomatosis |
| HP:0012221 | Pretibial blistering |
| HP:0012220 | Non-caseating epithelioid cell granulomatosis |
| http://purl.obolibrary.org/obo/MPATH_379 | odontogenic tumor |
| HP:0012228 | Tension-type headache |
| http://purl.obolibrary.org/obo/CL_0002231 | epithelial cell of prostate |
| HP:0000243 | Trigonocephaly |
| HP:0000244 | Brachyturricephaly |
| HP:0000242 | Parietal bossing |
| HP:0002696 | Abnormal parietal bone morphology |
| HP:0012230 | Rhegmatogenous retinal detachment |
| http://purl.obolibrary.org/obo/CL_0002257 | epithelial cell of thyroid gland |
| HP:0012238 | Increased circulating chylomicron concentration |
| HP:0012237 | Urocanic aciduria |
| HP:0012236 | Elevated sweat chloride |
| HP:0012235 | Drug-induced agranulocytosis |
| HP:0012233 | Intramuscular hematoma |
| HP:0012232 | Shortened QT interval |
| HP:0012231 | Exudative retinal detachment |
| HP:0000250 | Dense calvaria |
| HP:0012239 | Atransferrinemia |
| HP:0000255 | Acute sinusitis |
| http://purl.obolibrary.org/obo/CL_0002260 | epithelial cell of parathyroid gland |
| http://purl.obolibrary.org/obo/CL_1001593 | parathyroid glandular cell |
| HP:0000253 | Progressive microcephaly |
| HP:0012241 | Levator palpebrae superioris atrophy |
| HP:0012240 | Increased intramyocellular lipid droplets |
| HP:0012248 | Prolonged PR interval |
| HP:0012247 | Specific anosmia |
| HP:0012246 | Oculomotor nerve palsy |
| HP:0012245 | Sex reversal |
| HP:0012244 | Abnormal sex determination |
| HP:0012242 | Superior rectus atrophy |
| HP:0000260 | Wide anterior fontanel |
| http://purl.obolibrary.org/obo/CL_0002254 | epithelial cell of small intestine |
| HP:0000269 | Prominent occiput |
| HP:0000265 | Mastoiditis |
| HP:0000263 | Oxycephaly |
| HP:0000262 | Turricephaly |
| http://purl.obolibrary.org/obo/GO_1905349 | ciliary transition zone assembly |
| http://purl.obolibrary.org/obo/MPATH_346 | autoimmune mediated disease |
| http://purl.obolibrary.org/obo/MPATH_194 | immune mediated disease |
| http://purl.obolibrary.org/obo/MPATH_188 | immunopathological process |
| http://purl.obolibrary.org/obo/PR_000030026 | CALCA gene translation product (human) |
| HP:0002853 | Increased proportion of HLA DR+ T cells |
| HP:0002851 | Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells |
| HP:0002850 | Decreased circulating total IgM |
| http://purl.obolibrary.org/obo/GO_1905331 | negative regulation of morphogenesis of an epithelium |
| http://purl.obolibrary.org/obo/GO_1905332 | positive regulation of morphogenesis of an epithelium |
| http://purl.obolibrary.org/obo/GO_1905330 | regulation of morphogenesis of an epithelium |
| HP:0002868 | Narrow iliac wings |
| HP:0002869 | Flared iliac wings |
| HP:0000206 | Glossitis |
| HP:0002863 | Myelodysplasia |
| HP:0002866 | Hypoplastic iliac wing |
| HP:0000201 | Pierre-Robin sequence |
| HP:0000162 | Glossoptosis |
| HP:0002865 | Medullary thyroid carcinoma |
| HP:0000200 | Short lingual frenulum |
| HP:0000218 | High palate |
| HP:0002879 | Anisospondyly |
| HP:0002878 | Respiratory failure |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000216 | Broad secondary alveolar ridge |
| HP:0000187 | Broad alveolar ridges |
| HP:0000217 | Xerostomia |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9958 | REN (human) |
| http://purl.obolibrary.org/obo/MPATH_322 | teratoma |
| http://purl.obolibrary.org/obo/MPATH_254 | complex tumor |
| HP:0002875 | Exertional dyspnea |
| HP:0000214 | Lip telangiectasia |
| HP:0000215 | Thick upper lip vermilion |
| HP:0002877 | Nocturnal hypoventilation |
| HP:0000212 | Gingival overgrowth |
| HP:0002876 | Episodic tachypnea |
| HP:0002789 | Tachypnea |
| HP:0002871 | Central apnea |
| HP:0002870 | Obstructive sleep apnea |
| HP:0000211 | Trismus |
| HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress |
| HP:0000227 | Tongue telangiectasia |
| HP:0012205 | Globozoospermia |
| HP:0012204 | Recurrent vulvovaginal candidiasis |
| HP:0012203 | Onychomycosis |
| http://purl.obolibrary.org/obo/MPATH_310 | germ cell tumor |
| http://purl.obolibrary.org/obo/MPATH_309 | gonadal tumor |
| http://purl.obolibrary.org/obo/UBERON_0007590 | cuboidal oviduct epithelium |
| HP:0012209 | Juvenile myelomonocytic leukemia |
| HP:0012208 | Nonmotile sperm |
| HP:0012207 | Reduced sperm motility |
| HP:0012206 | Abnormal sperm motility |
| HP:0002886 | Vagal paraganglioma |
| HP:0000225 | Gingival bleeding |
| HP:0002888 | Ependymoma |
| HP:0000224 | Decreased taste sensation |
| HP:0002882 | Sudden episodic apnea |
| HP:0000221 | Furrowed tongue |
| HP:0000222 | Gingival hyperkeratosis |
| HP:0002884 | Hepatoblastoma |
| http://purl.obolibrary.org/obo/CL_0002293 | epithelial cell of thymus |
| HP:0000220 | Velopharyngeal insufficiency |
| http://purl.obolibrary.org/obo/CHEBI_37257 | phytanate |
| HP:0012371 | Hyperplasia of midface |
| HP:0012370 | Prominence of the zygomatic bone |
| http://purl.obolibrary.org/obo/MPATH_502 | monocytic leukaemia |
| http://purl.obolibrary.org/obo/MPATH_342 | myeloid leukaemia |
| HP:0012376 | Microphakia |
| HP:0012375 | Chemosis |
| HP:0000394 | Lop ear |
| HP:0000391 | Thickened helices |
| HP:0000399 | Prelingual sensorineural hearing impairment |
| HP:0000395 | Prominent antihelix |
| HP:0012383 | Bidirectional shunt |
| HP:0012382 | Left-to-right shunt |
| HP:0012381 | Delayed self-feeding during toddler years |
| HP:0012380 | Reduced carnitine O-palmitoyltransferase level |
| HP:0012389 | Appendicular hypotonia |
| HP:0012388 | Acute bronchitis |
| http://purl.obolibrary.org/obo/CHEBI_50249 | anticoagulant |
| http://purl.obolibrary.org/obo/CHEBI_50248 | hematologic agent |
| HP:0012386 | Absent hallux |
| HP:0012395 | Seasonal allergy |
| HP:0012394 | Iodine contrast allergy |
| HP:0012392 | Jaw hyporeflexia |
| HP:0012391 | Hyporeflexia of upper limbs |
| HP:0012390 | Anal fissure |
| HP:0012399 | Pressure ulcer |
| HP:0012398 | Peripheral edema |
| HP:0012397 | Aortic atherosclerotic lesion |
| http://purl.obolibrary.org/obo/UBERON_0007500 | epithelial tube open at both ends |
| http://purl.obolibrary.org/obo/CHEBI_50266 | prodrug |
| http://purl.obolibrary.org/obo/CHEBI_76874 | EC 2.1.2.* (hydroxymethyl-, formyl- and related transferases) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76655 | EC 2.1.* (C1-transferase) inhibitor |
| http://purl.obolibrary.org/obo/CP_0000000 | neutrophillic cytoplasm |
| http://purl.obolibrary.org/obo/CHEBI_27897 | tryptophan |
| http://purl.obolibrary.org/obo/CP_0000028 | basophilic cytoplasm |
| http://purl.obolibrary.org/obo/CP_0000027 | acidophilic cytoplasm |
| http://purl.obolibrary.org/obo/CHEBI_15891 | taurine |
| http://purl.obolibrary.org/obo/CP_0000035 | polychromatophilic cytoplasm |
| http://purl.obolibrary.org/obo/CP_0000037 | increased nucleus size |
| http://purl.obolibrary.org/obo/GO_0005634 | nucleus |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0002933 | Ventral hernia |
| http://purl.obolibrary.org/obo/GO_1905427 | intracellular signal transduction involved in positive regulation of cell growth |
| HP:0002930 | Impaired sensitivity to thyroid hormone |
| HP:0002932 | Aldehyde oxidase deficiency |
| HP:0002947 | Cervical kyphosis |
| http://purl.obolibrary.org/obo/GO_1905419 | sperm flagellum movement involved in flagellated sperm motility |
| http://purl.obolibrary.org/obo/CL_0002198 | oncocyte |
| http://purl.obolibrary.org/obo/CL_0002195 | hepatic stem cell |
| HP:0002959 | Impaired Ig class switch recombination |
| HP:0002958 | Immune dysregulation |
| HP:0002951 | Partial absence of cerebellar vermis |
| HP:0002953 | Vertebral compression fractures |
| HP:0000308 | Microretrognathia |
| HP:0000278 | Retrognathia |
| HP:0002967 | Cubitus valgus |
| HP:0000307 | Pointed chin |
| HP:0000303 | Mandibular prognathia |
| HP:0002965 | Cutaneous anergy |
| HP:0000300 | Oval face |
| HP:0002961 | Dysgammaglobulinemia |
| HP:0002905 | Hyperphosphatemia |
| HP:0002907 | Microscopic hematuria |
| HP:0002902 | Hyponatremia |
| HP:0002909 | Generalized aminoaciduria |
| HP:0002908 | Conjugated hyperbilirubinemia |
| HP:0002918 | Hypermagnesemia |
| HP:0002917 | Hypomagnesemia |
| HP:0004921 | Abnormal magnesium concentration |
| HP:0002912 | Methylmalonic acidemia |
| HP:0002914 | Hyperchloriduria |
| HP:0002919 | Ketonuria |
| http://purl.obolibrary.org/obo/CHEBI_15801 | (R)-2-hydroxyglutarate(2-) |
| HP:0002927 | Histidinuria |
| HP:0002929 | Leydig cell insensitivity to gonadotropin |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex |
| HP:0002923 | Rheumatoid factor positive |
| HP:0002925 | Increased thyroid-stimulating hormone level |
| HP:0002920 | Decreased circulating ACTH level |
| HP:0012334 | Extrahepatic cholestasis |
| HP:0012333 | Abnormal sudomotor regulation |
| http://purl.obolibrary.org/obo/CHEBI_49167 | anti-asthmatic drug |
| HP:0012339 | Increased resting energy expenditure |
| HP:0012340 | Decreased resting energy expenditure |
| HP:0012338 | Abnormal energy expenditure |
| http://purl.obolibrary.org/obo/CHEBI_50160 | steroid acid anion |
| HP:0012348 | Decreased galactosylation of N-linked protein glycosylation |
| HP:0012344 | Morphea |
| HP:0012343 | Decreased serum ferritin |
| HP:0012342 | Macroprolactinoma |
| HP:0012341 | Microprolactinoma |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000362 | Otosclerosis |
| HP:0012351 | Increased sialylation of N-linked protein glycosylation |
| HP:0012350 | Decreased sialylation of N-linked protein glycosylation |
| HP:0012357 | Increased mannosylation of N-linked protein glycosylation |
| http://purl.obolibrary.org/obo/CHEBI_50176 | keratolytic drug |
| HP:0012356 | Decreased mannosylation of N-linked protein glycosylation |
| HP:0012355 | Abnormal mannosylation of N-linked protein glycosylation |
| HP:0012354 | Increased fucosylation of N-linked protein glycosylation |
| HP:0012353 | Decreased fucosylation of N-linked protein glycosylation |
| HP:0012352 | Abnormal fucosylation of protein N-linked glycosylation |
| HP:0000371 | Acute otitis media |
| http://purl.obolibrary.org/obo/MPATH_496 | Non-Lymphoid leukaemias |
| http://purl.obolibrary.org/obo/MPATH_515 | Non-Lymphoid neoplasias |
| http://purl.obolibrary.org/obo/MPATH_335 | hematopoietic/lymphoid malignancies/disorder |
| http://purl.obolibrary.org/obo/MPATH_218 | neoplasm |
| http://purl.obolibrary.org/obo/CL_0002145 | ciliated columnar cell of tracheobronchial tree |
| HP:0000378 | Cupped ear |
| http://purl.obolibrary.org/obo/CL_0002140 | acinar cell of sebaceous gland |
| HP:0000376 | Incomplete partition of the cochlea type II |
| HP:0012361 | Increased fucosylation of O-linked protein glycosylation |
| HP:0012360 | Decreased fucosylation of O-linked protein glycosylation |
| http://purl.obolibrary.org/obo/CL_0002127 | innate effector T cell |
| http://purl.obolibrary.org/obo/GO_0030990 | intraciliary transport particle |
| HP:0012368 | Flat face |
| HP:0012367 | Extra fontanelles |
| HP:0012366 | Basilar invagination |
| HP:0012365 | Hypophosphaturia |
| http://purl.obolibrary.org/obo/MPATH_476 | telangiectasia |
| HP:0012364 | Decreased urinary potassium |
| HP:0012363 | Decreased sialylation of O-linked protein glycosylation |
| HP:0000389 | Chronic otitis media |
| HP:0000387 | Absent earlobe |
| HP:0000384 | Preauricular skin tag |
| HP:0000385 | Small earlobe |
| HP:0000319 | Smooth philtrum |
| HP:0000317 | Facial myokymia |
| HP:0000316 | Hypertelorism |
| HP:0000311 | Round face |
| HP:0002972 | Reduced delayed hypersensitivity |
| HP:0002963 | Abnormal delayed hypersensitivity skin test |
| HP:0002971 | Absent microvilli on the surface of peripheral blood lymphocytes |
| http://purl.obolibrary.org/obo/CL_0002148 | dental pulp cell |
| http://purl.obolibrary.org/obo/CL_0002149 | epithelial cell of uterus |
| HP:0012304 | Hypoplastic aortic arch |
| HP:0012302 | Herpes simplex encephalitis |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0012300 | Ureteral agenesis |
| HP:0012308 | Decreased serum complement C9 |
| HP:0012307 | Spatulate ribs |
| HP:0000325 | Triangular face |
| HP:0002987 | Elbow flexion contracture |
| HP:0000322 | Short philtrum |
| HP:0002986 | Radial bowing |
| HP:0000320 | Bird-like facies |
| HP:0000321 | Square face |
| HP:0000339 | Pugilistic facies |
| HP:0000280 | Coarse facial features |
| HP:0000337 | Broad forehead |
| HP:0000338 | Hypomimic face |
| HP:0012315 | Histiocytoma |
| HP:0012314 | Bouchard's node |
| HP:0012313 | Heberden's node |
| HP:0012312 | Monocytopenia |
| HP:0012311 | Monocytosis |
| HP:0012310 | Abnormal monocyte count |
| HP:0012144 | Abnormality monocyte morphology |
| HP:0002990 | Fibula agenesis |
| HP:0012319 | Absent pigmentation of the abdomen |
| HP:0012318 | Occipital neuralgia |
| HP:0012317 | Sacroiliac arthritis |
| HP:0000331 | Short chin |
| http://purl.obolibrary.org/obo/CL_0002183 | stem cell of gastric gland |
| http://purl.obolibrary.org/obo/CL_0002180 | mucous cell of stomach |
| http://purl.obolibrary.org/obo/CL_0002659 | glandular cell of stomach |
| HP:0000348 | High forehead |
| HP:0000349 | Widow's peak |
| HP:0012325 | Chronic myelomonocytic leukemia |
| HP:0012324 | Myeloid leukemia |
| HP:0012323 | Sleep myoclonus |
| HP:0012322 | Perifolliculitis |
| HP:0012321 | D-2-hydroxyglutaric aciduria |
| HP:0012320 | Absent pigmentation of the limbs |
| HP:0012329 | Tufted angioma |
| HP:0012328 | Cementoma |
| HP:0012327 | Celiac artery compression |
| HP:0012326 | Abnormal celiac artery morphology |
| HP:0000346 | Whistling appearance |
| HP:0000205 | Pursed lips |
| http://purl.obolibrary.org/obo/CL_0002178 | epithelial cell of stomach |
| HP:0000343 | Long philtrum |
| HP:0000340 | Sloping forehead |
| HP:0000341 | Narrow forehead |
| HP:0000350 | Small forehead |
| http://purl.obolibrary.org/obo/CL_0010002 | epithelial cell of umbilical artery |
| http://purl.obolibrary.org/obo/CL_0010004 | mononuclear cell of bone marrow |
| http://purl.obolibrary.org/obo/CL_0010020 | cardiac glial cell |
| http://purl.obolibrary.org/obo/CL_0010012 | cerebral cortex neuron |
| http://purl.obolibrary.org/obo/UBERON_0007414 | nucleus of midbrain tegmentum |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=15855 | CD93 (human) |
| http://purl.obolibrary.org/obo/CL_0010022 | cardiac neuron |
| HP:0012494 | Anterior cerebral artery stenosis |
| HP:0012493 | Middle cerebral artery stenosis |
| HP:0012491 | Abnormal dense tubular system |
| HP:0012490 | Panniculitis |
| http://purl.obolibrary.org/obo/PR_P35456 | urokinase plasminogen activator surface receptor (mouse) |
| HP:0012499 | Descending aortic dissection |
| HP:0002647 | Aortic dissection |
| HP:0012498 | Nuchal cord |
| HP:0012497 | Reduced maximal expiratory pressure |
| HP:0012496 | Reduced maximal inspiratory pressure |
| HP:0012495 | Posterior cerebral artery stenosis |
| HP:0012492 | Cerebral artery stenosis |
| http://purl.obolibrary.org/obo/PR_000019972 | gastrin, signal peptide removed form |
| http://purl.obolibrary.org/obo/CL_0000613 | basophil progenitor cell |
| http://purl.obolibrary.org/obo/PATO_0001195 | proximal to |
| http://purl.obolibrary.org/obo/CHEBI_42090 | L-threitol |
| http://purl.obolibrary.org/obo/PR_Q08890 | iduronate 2-sulfatase (mouse) |
| http://purl.obolibrary.org/obo/CL_0000622 | acinar cell |
| http://purl.obolibrary.org/obo/PR_P35461 | lymphocyte antigen 6G (mouse) |
| http://purl.obolibrary.org/obo/CL_0000657 | secondary spermatocyte |
| http://purl.obolibrary.org/obo/CL_0000656 | primary spermatocyte |
| http://purl.obolibrary.org/obo/CL_0000017 | spermatocyte |
| http://purl.obolibrary.org/obo/PR_Q8CIZ8 | von Willebrand factor (mouse) |
| http://purl.obolibrary.org/obo/CL_0000670 | primordial germ cell |
| http://purl.obolibrary.org/obo/CL_0009004 | retinal cell |
| http://purl.obolibrary.org/obo/CHEBI_29057 | keratan |
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0000403 | Recurrent otitis media |
| http://purl.obolibrary.org/obo/CHEBI_68641 | (-)-cotinine |
| http://purl.obolibrary.org/obo/CHEBI_32697 | argininium(2+) |
| http://purl.obolibrary.org/obo/CHEBI_32696 | argininium(1+) |
| http://purl.obolibrary.org/obo/CHEBI_32695 | argininate |
| HP:0000418 | Narrow nasal ridge |
| HP:0000417 | Slender nose |
| HP:0000414 | Bulbous nose |
| HP:0000410 | Mixed hearing impairment |
| HP:0000411 | Protruding ear |
| HP:0000426 | Prominent nasal bridge |
| HP:0012403 | Decreased urine alpha-ketoglutarate concentration |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration |
| HP:0012401 | Abnormal urine alpha-ketoglutarate concentration |
| http://purl.obolibrary.org/obo/GO_1905516 | positive regulation of fertilization |
| HP:0012409 | Cortical nephrocalcinosis |
| HP:0012408 | Medullary nephrocalcinosis |
| HP:0012407 | Scissor gait |
| HP:0012406 | Hypercitraturia |
| HP:0012405 | Hypocitraturia |
| HP:0012404 | Abnormal urine citrate concentration |
| HP:0000420 | Short nasal septum |
| http://purl.obolibrary.org/obo/CHEBI_30089 | acetate |
| http://purl.obolibrary.org/obo/CL_0000712 | stratum granulosum cell |
| http://purl.obolibrary.org/obo/CL_0000710 | neurecto-epithelial cell |
| http://purl.obolibrary.org/obo/CL_0000075 | columnar/cuboidal epithelial cell |
| http://purl.obolibrary.org/obo/PATO_0001168 | undamaged |
| http://purl.obolibrary.org/obo/PATO_0001167 | damaged |
| http://purl.obolibrary.org/obo/PATO_0001172 | inelastic |
| http://purl.obolibrary.org/obo/PATO_0001154 | elongated |
| http://purl.obolibrary.org/obo/PATO_0001153 | insusceptible toward |
| http://purl.obolibrary.org/obo/PATO_0001163 | decreased concentration |
| http://purl.obolibrary.org/obo/PATO_0001162 | increased concentration |
| http://purl.obolibrary.org/obo/PATO_0001159 | concentrated |
| HP:0012450 | Chronic constipation |
| http://purl.obolibrary.org/obo/CHEBI_17002 | cholesteryl ester |
| HP:0012458 | Medial calcification of small arteries |
| HP:0012457 | Medial calcification of medium-sized arteries |
| HP:0012456 | Medial arterial calcification |
| HP:0012454 | Unilateral wrist flexion contracture |
| HP:0012453 | Bilateral wrist flexion contracture |
| HP:0012452 | Restless legs |
| HP:0012451 | Acute constipation |
| HP:0000470 | Short neck |
| HP:0000471 | Gastrointestinal angiodysplasia |
| http://purl.obolibrary.org/obo/CHEBI_32627 | leucinate |
| HP:0012459 | Hypnic headache |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000475 | Broad neck |
| HP:0000472 | Long neck |
| HP:0000473 | Torticollis |
| HP:0012461 | Bacteriuria |
| HP:0012460 | Dysmorphic inferior cerebellar vermis |
| HP:0012469 | Infantile spasms |
| http://purl.obolibrary.org/obo/CHEBI_17012 | N-acetylneuraminic acid |
| HP:0012467 | Acute respiratory acidosis |
| http://purl.obolibrary.org/obo/CHEBI_78017 | food propellant |
| http://purl.obolibrary.org/obo/CHEBI_76414 | propellant |
| HP:0012466 | Chronic respiratory acidosis |
| HP:0012465 | Elevated hepatic iron concentration |
| HP:0012464 | Decreased transferrin saturation |
| HP:0012463 | Elevated transferrin saturation |
| HP:0012462 | Chin myoclonus |
| http://purl.obolibrary.org/obo/CHEBI_32613 | isoleucinium |
| http://purl.obolibrary.org/obo/UBERON_0007373 | inferior surface of tongue |
| http://purl.obolibrary.org/obo/UBERON_0007371 | superior surface of tongue |
| http://purl.obolibrary.org/obo/UBERON_0007367 | surface of tongue |
| http://purl.obolibrary.org/obo/CHEBI_32612 | isoleucinate |
| http://purl.obolibrary.org/obo/UBERON_0034953 | embryonic lymph sac |
| http://purl.obolibrary.org/obo/UBERON_0007377 | stratum compactum of dermis |
| http://purl.obolibrary.org/obo/UBERON_0007374 | incus cartilage element |
| HP:0000484 | Hyperopic astigmatism |
| HP:0012471 | Thick vermilion border |
| HP:0012470 | Setting-sun eye phenomenon |
| http://purl.obolibrary.org/obo/CHEBI_20664 | 5beta-cholane |
| HP:0012479 | Temporomandibular joint crepitus |
| HP:0012478 | Temporomandibular joint ankylosis |
| HP:0012477 | Vocal tremor |
| HP:0012476 | Decreased specific pneumococcal antibody level |
| HP:0012474 | Carotid artery occlusion |
| HP:0012473 | Tongue atrophy |
| http://purl.obolibrary.org/obo/UBERON_0007383 | enveloping layer of ectoderm |
| http://purl.obolibrary.org/obo/CHEBI_32646 | methioninium |
| HP:0000490 | Deeply set eye |
| http://purl.obolibrary.org/obo/CHEBI_32644 | methioninate |
| HP:0000497 | Globe retraction and deviation on abduction |
| http://purl.obolibrary.org/obo/UBERON_0034940 | venous sinus cavity |
| http://purl.obolibrary.org/obo/UBERON_0007385 | pectoral appendage lymph vessel |
| HP:0000494 | Downslanted palpebral fissures |
| http://purl.obolibrary.org/obo/UBERON_0007386 | pelvic appendage lymph vessel |
| http://purl.obolibrary.org/obo/UBERON_0007384 | appendage lymph vessel |
| HP:0000495 | Recurrent corneal erosions |
| HP:0012482 | Frontal venous angioma |
| HP:0012481 | Cerebral venous angioma |
| HP:0012489 | Suprasellar arachnoid cyst |
| HP:0012488 | Intraventricular arachnoid cyst |
| HP:0012487 | Cerebellopontine angle arachnoid cyst |
| HP:0012486 | Myelitis |
| http://purl.obolibrary.org/obo/CHEBI_32628 | leucinium |
| HP:0012485 | Abnormal surface-connected open canalicular system |
| http://purl.obolibrary.org/obo/UBERON_0009989 | condyle of tibia |
| HP:0000437 | Depressed nasal tip |
| HP:0012414 | Duodenal atrophy |
| http://purl.obolibrary.org/obo/CHEBI_29016 | arginine |
| HP:0012413 | Notched primary central incisor |
| HP:0012412 | Premature adrenarche |
| HP:0012411 | Premature pubarche |
| HP:0012410 | Pure red cell aplasia |
| http://purl.obolibrary.org/obo/UBERON_0010977 | flexor pre-muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0019307 | epithelium of external nose |
| HP:0000434 | Nasal mucosa telangiectasia |
| http://purl.obolibrary.org/obo/UBERON_0010970 | intercostal pre-muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0009988 | condyle of humerus |
| http://purl.obolibrary.org/obo/UBERON_0010975 | external oblique pre-muscle mass |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0000431 | Wide nasal bridge |
| http://purl.obolibrary.org/obo/UBERON_0009984 | medial condyle of femur |
| http://purl.obolibrary.org/obo/UBERON_0009980 | condyle of femur |
| HP:0000447 | Pear-shaped nose |
| HP:0000448 | Prominent nose |
| HP:0012425 | Stercoral ulcer |
| http://purl.obolibrary.org/obo/UBERON_0019315 | meibum |
| HP:0012424 | Chorioretinitis |
| HP:0012423 | Colonic inertia |
| http://purl.obolibrary.org/obo/UBERON_0020358 | accessory XI nerve nucleus |
| HP:0012422 | Villous hypertrophy of choroid plexus |
| HP:0012421 | Congenital absence of foreskin |
| http://purl.obolibrary.org/obo/CHEBI_17053 | L-aspartic acid |
| HP:0012420 | Meconium stained amniotic fluid |
| http://purl.obolibrary.org/obo/CHEBI_32657 | D-asparaginium |
| HP:0012428 | Prominent calcaneus |
| http://purl.obolibrary.org/obo/CHEBI_32656 | D-asparaginate |
| HP:0012427 | Excessive femoral anteversion |
| HP:0012426 | Optic disc drusen |
| http://purl.obolibrary.org/obo/UBERON_0010982 | latissimus dorsi pre-muscle mass |
| http://purl.obolibrary.org/obo/CHEBI_32650 | L-asparaginate |
| http://purl.obolibrary.org/obo/CHEBI_32660 | asparaginate |
| HP:0000445 | Wide nose |
| HP:0000446 | Narrow nasal bridge |
| http://purl.obolibrary.org/obo/CHEBI_32651 | L-asparaginium |
| http://purl.obolibrary.org/obo/CHEBI_32661 | asparaginium |
| HP:0000444 | Convex nasal ridge |
| http://purl.obolibrary.org/obo/UBERON_0010986 | serratus ventralis pre-muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0010984 | pectoral pre-muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0010983 | levator scapulae pre-muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0034994 | hindbrain cortical intermediate zone |
| HP:0012436 | Nonocclusive coronary artery atherosclerosis |
| HP:0012435 | Ventral shortening of foreskin |
| http://www.informatics.jax.org/marker/MGI:95797 | Gpi1 (mouse) |
| HP:0012434 | Delayed social development |
| HP:0012432 | Chronic fatigue |
| HP:0012431 | Episodic fatigue |
| http://purl.obolibrary.org/obo/CHEBI_17026 | progesterone |
| http://purl.obolibrary.org/obo/CHEBI_64600 | C21-steroid hormone |
| HP:0000456 | Bifid nasal tip |
| HP:0000457 | Depressed nasal ridge |
| HP:0000454 | Flared nostrils |
| HP:0000455 | Broad nasal tip |
| http://purl.obolibrary.org/obo/GO_0062023 | collagen-containing extracellular matrix |
| HP:0000451 | Triangular nasal tip |
| HP:0012446 | Decreased CSF 5-methyltetrahydrofolate concentration |
| HP:0012442 | Gallbladder dyskinesia |
| HP:0012441 | Sphincter of Oddi dyskinesia |
| HP:0012396 | Biliary dyskinesia |
| HP:0012439 | Abnormal biliary tract physiology |
| http://purl.obolibrary.org/obo/CHEBI_32679 | glutaminium |
| HP:0000460 | Narrow nose |
| http://purl.obolibrary.org/obo/CHEBI_32678 | glutaminate |
| HP:0012449 | Sacroiliac joint synovitis |
| HP:0100781 | Abnormality of the sacroiliac joint |
| HP:0000468 | Increased adipose tissue around the neck |
| HP:0000465 | Webbed neck |
| HP:0000466 | Limited neck range of motion |
| http://purl.obolibrary.org/obo/UBERON_0007354 | cartilage of pharyngotympanic tube |
| http://purl.obolibrary.org/obo/UBERON_0007355 | bony part of pharyngotympanic tube |
| http://purl.obolibrary.org/obo/CL_0000575 | corneal epithelial cell |
| http://purl.obolibrary.org/obo/UBERON_0010929 | stapedius pre-muscle condensation |
| http://purl.obolibrary.org/obo/UBERON_0010935 | tensor tympani pre-muscle condensation |
| http://purl.obolibrary.org/obo/UBERON_0010933 | orbicularis oris muscle |
| http://purl.obolibrary.org/obo/CL_0000566 | angioblastic mesenchymal cell |
| http://purl.obolibrary.org/obo/CL_0000562 | nucleate erythrocyte |
| http://purl.obolibrary.org/obo/UBERON_0009958 | bladder lumen |
| http://purl.obolibrary.org/obo/UBERON_0010946 | occipitofrontalis muscle |
| http://purl.obolibrary.org/obo/UBERON_0010943 | anterior digastric muscle |
| http://purl.obolibrary.org/obo/UBERON_0010949 | sternooccipital muscle |
| http://purl.obolibrary.org/obo/UBERON_0010948 | cleidooccipital muscle |
| http://purl.obolibrary.org/obo/UBERON_0009953 | post-embryonic organism |
| http://purl.obolibrary.org/obo/UBERON_0010940 | muscle of digastric group |
| http://purl.obolibrary.org/obo/UBERON_0007307 | pronephric glomerular basement membrane |
| http://purl.obolibrary.org/obo/CL_0000595 | enucleate erythrocyte |
| http://purl.obolibrary.org/obo/UBERON_0007306 | pronephric glomerular capillary |
| http://purl.obolibrary.org/obo/UBERON_0010955 | trapezius pre-muscle mass |
| http://purl.obolibrary.org/obo/PR_Q921V5 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0007303 | pharyngeal vasculature |
| http://purl.obolibrary.org/obo/UBERON_0007302 | pectoral appendage vasculature |
| http://purl.obolibrary.org/obo/UBERON_0007304 | appendage vasculature |
| http://purl.obolibrary.org/obo/UBERON_0010953 | nasalis muscle |
| http://purl.obolibrary.org/obo/UBERON_0010952 | frontalis muscle belly |
| http://purl.obolibrary.org/obo/UBERON_0010938 | muscle belly |
| http://purl.obolibrary.org/obo/UBERON_0009979 | condyle |
| http://purl.obolibrary.org/obo/UBERON_0007315 | internal pudendal artery |
| http://purl.obolibrary.org/obo/UBERON_0007312 | pudendal artery |
| http://purl.obolibrary.org/obo/UBERON_0009970 | epithelium of pancreatic duct |
| http://purl.obolibrary.org/obo/UBERON_0010963 | trunk and cervical myotome group |
| http://purl.obolibrary.org/obo/UBERON_0009973 | ureterovesical junction |
| http://purl.obolibrary.org/obo/UBERON_0010962 | extensor pre-muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0009972 | ureteropelvic junction |
| http://purl.obolibrary.org/obo/UBERON_0034928 | dorsal surface of penis |
| http://purl.obolibrary.org/obo/GO_0015671 | oxygen transport |
| http://purl.obolibrary.org/obo/GO_0015669 | gas transport |
| http://purl.obolibrary.org/obo/UBERON_0009917 | kidney corticomedullary boundary |
| http://purl.obolibrary.org/obo/UBERON_0009916 | wall of ureter |
| http://purl.obolibrary.org/obo/UBERON_0009919 | ureter smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0009913 | renal lobe |
| http://purl.obolibrary.org/obo/UBERON_0009914 | renal lobule |
| http://purl.obolibrary.org/obo/UBERON_0034909 | intermaxillary suture |
| http://purl.obolibrary.org/obo/UBERON_0010905 | clavicle bone primordium |
| http://purl.obolibrary.org/obo/NCBITaxon_4932 | Saccharomyces cerevisiae |
| http://purl.obolibrary.org/obo/CHEBI_81568 | Luteinizing hormone |
| http://purl.obolibrary.org/obo/UBERON_0034905 | gland lumen |
| http://purl.obolibrary.org/obo/UBERON_0034907 | pineal parenchyma |
| http://purl.obolibrary.org/obo/UBERON_0005158 | parenchyma of central nervous system |
| http://purl.obolibrary.org/obo/UBERON_0034902 | sacral sympathetic nerve trunk |
| http://purl.obolibrary.org/obo/UBERON_0034901 | cervical sympathetic nerve trunk |
| http://purl.obolibrary.org/obo/UBERON_0034903 | left atrium endocardium |
| http://purl.obolibrary.org/obo/UBERON_0009920 | optic neural crest |
| http://purl.obolibrary.org/obo/GO_0015696 | ammonium transport |
| http://purl.obolibrary.org/obo/GO_0015672 | monovalent inorganic cation transport |
| http://purl.obolibrary.org/obo/CL_0000513 | cardiac muscle myoblast |
| http://purl.obolibrary.org/obo/CL_0010021 | cardiac myoblast |
| http://purl.obolibrary.org/obo/CL_0000525 | syncytiotrophoblast cell |
| http://purl.obolibrary.org/obo/CL_0000558 | reticulocyte |
| http://purl.obolibrary.org/obo/CL_0000557 | granulocyte monocyte progenitor cell |
| http://purl.obolibrary.org/obo/CL_0000556 | megakaryocyte |
| http://purl.obolibrary.org/obo/CL_1001610 | bone marrow hematopoietic cell |
| http://purl.obolibrary.org/obo/CL_0000553 | megakaryocyte progenitor cell |
| http://purl.obolibrary.org/obo/CL_0000552 | orthochromatic erythroblast |
| http://purl.obolibrary.org/obo/CL_0000559 | promonocyte |
| http://purl.obolibrary.org/obo/CL_0002194 | monopoietic cell |
| http://purl.obolibrary.org/obo/CL_0000547 | proerythroblast |
| http://purl.obolibrary.org/obo/CL_0000549 | basophilic erythroblast |
| http://purl.obolibrary.org/obo/CL_0000550 | polychromatophilic erythroblast |
| HP:0000519 | Developmental cataract |
| http://purl.obolibrary.org/obo/PATO_0001229 | high saturation |
| HP:0000526 | Aniridia |
| HP:0000524 | Conjunctival telangiectasia |
| HP:0012502 | Abnormality of the internal capsule |
| HP:0012500 | Verrucous papule |
| HP:0012509 | Reduced thyroxin-binding globulin |
| HP:0012508 | Metamorphopsia |
| HP:0012507 | Weakness of orbicularis oculi muscle |
| HP:0012505 | Enlarged pituitary gland |
| HP:0000522 | Alacrima |
| HP:0000537 | Epicanthus inversus |
| HP:0000538 | Pseudopapilledema |
| HP:0000535 | Sparse and thin eyebrow |
| HP:0012510 | Extra-axial cerebrospinal fluid accumulation |
| HP:0012519 | Hypoplastic posterior communicating artery |
| HP:0012517 | Reduced catalase level |
| HP:0012515 | Hip flexor weakness |
| HP:0000531 | Corneal crystals |
| HP:0012524 | Abnormal platelet shape |
| HP:0012523 | Oral aversion |
| HP:0012522 | Spider hemangioma |
| HP:0012521 | Optic nerve aplasia |
| HP:0012520 | Perivascular spaces |
| HP:0012529 | Abnormal dense granule content |
| HP:0012527 | Abnormal alpha granule content |
| HP:0012526 | Absence of alpha granules |
| HP:0012528 | Abnormal number of alpha granules |
| HP:0012525 | Abnormal alpha granule distribution |
| HP:0012483 | Abnormal alpha granules |
| http://purl.obolibrary.org/obo/UBERON_0034898 | alveolar ridge of premaxilla |
| HP:0000542 | Impaired ocular adduction |
| http://purl.obolibrary.org/obo/UBERON_0007284 | presumptive neural plate |
| http://purl.obolibrary.org/obo/UBERON_0007285 | presumptive paraxial mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0007282 | presumptive segmental plate |
| http://purl.obolibrary.org/obo/UBERON_0007280 | presumptive endocardium |
| http://purl.obolibrary.org/obo/UBERON_0007281 | presumptive midbrain hindbrain boundary |
| http://purl.obolibrary.org/obo/UBERON_0007288 | presumptive forebrain midbrain boundary |
| http://purl.obolibrary.org/obo/UBERON_0007289 | presumptive rhombomere 1 |
| http://purl.obolibrary.org/obo/CHEBI_68566 | 3-methylglutaric acid |
| http://purl.obolibrary.org/obo/UBERON_0007299 | choroid plexus of tectal ventricle |
| http://purl.obolibrary.org/obo/UBERON_0007297 | presumptive pronephric mesoderm |
| http://purl.obolibrary.org/obo/PR_Q06278 | PR:Q06278 located_in GO:0005829 |
| HP:0000506 | Telecanthus |
| http://purl.obolibrary.org/obo/UBERON_0019293 | white matter of pontine tegmentum |
| HP:0000503 | Tortuosity of conjunctival vessels |
| http://purl.obolibrary.org/obo/CHEBI_8504 | prostanoic acid |
| HP:0012571 | Duplication of ureter |
| HP:0012570 | Synovial sarcoma |
| HP:0012579 | Minimal change glomerulonephritis |
| HP:0012578 | Membranous nephropathy |
| HP:0012577 | Thin glomerular basement membrane |
| HP:0012576 | Glomerular C3 deposition |
| HP:0012574 | Mesangial hypercellularity |
| HP:0012573 | Global proximal tubulopathy |
| HP:0012572 | Duplication of ureter |
| http://purl.obolibrary.org/obo/CHEBI_32504 | phenylalaninate |
| http://purl.obolibrary.org/obo/UBERON_0007240 | tunica adventitia of artery |
| http://purl.obolibrary.org/obo/UBERON_0007241 | tunica adventitia of vein |
| HP:0000592 | Blue sclerae |
| http://purl.obolibrary.org/obo/UBERON_0010899 | synchronous hermaphroditic organism |
| http://purl.obolibrary.org/obo/CHEBI_32505 | phenylalaninium |
| HP:0000590 | Progressive external ophthalmoplegia |
| http://www.informatics.jax.org/marker/MGI:95661 | Gata1 (mouse) |
| http://www.informatics.jax.org/marker/MGI:95662 | Gata2 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0010893 | median external naris |
| http://purl.obolibrary.org/obo/UBERON_0007247 | nucleus of superior olivary complex |
| http://purl.obolibrary.org/obo/UBERON_0007242 | tunica intima of vein |
| http://purl.obolibrary.org/obo/UBERON_0007243 | tunica media of vein |
| HP:0000594 | Shallow anterior chamber |
| HP:0012582 | Bilateral renal dysplasia |
| HP:0012581 | Solitary renal cyst |
| HP:0012580 | Calcium phosphate nephrolithiasis |
| HP:0012589 | Multidrug-resistant nephrotic syndrome |
| HP:0012588 | Steroid-resistant nephrotic syndrome |
| HP:0012587 | Macroscopic hematuria |
| HP:0012586 | Bilateral renal atrophy |
| HP:0012584 | Bilateral renal hypoplasia |
| HP:0012583 | Unilateral renal hypoplasia |
| HP:0000089 | Renal hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0007250 | lingual tonsil |
| http://www.informatics.jax.org/marker/MGI:1351314 | Slamf1 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0007257 | intervertebral disk of sacral vertebra |
| http://purl.obolibrary.org/obo/UBERON_0007255 | intervertebral disk of lumbar vertebra |
| http://purl.obolibrary.org/obo/UBERON_0007254 | intervertebral disk of thoracic vertebra |
| HP:0012593 | Nephrotic range proteinuria |
| http://purl.obolibrary.org/obo/UBERON_0019247 | plantar skin crease |
| HP:0012597 | Heavy proteinuria |
| http://purl.obolibrary.org/obo/UBERON_0019246 | palmar skin crease |
| HP:0012596 | Moderate proteinuria |
| HP:0012595 | Mild proteinuria |
| HP:0012594 | Microalbuminuria |
| HP:0012592 | Albuminuria |
| http://purl.obolibrary.org/obo/UBERON_0019243 | skin crease |
| http://purl.obolibrary.org/obo/UBERON_0007262 | intervertebral disk of fifth cervical vertebra |
| http://purl.obolibrary.org/obo/UBERON_0007260 | intervertebral disk of third cervical vertebra |
| http://purl.obolibrary.org/obo/UBERON_0007261 | intervertebral disk of fourth cervical vertebra |
| http://purl.obolibrary.org/obo/UBERON_0007266 | intervertebral disk of atlas |
| http://purl.obolibrary.org/obo/UBERON_0007267 | trachea pre-cartilage rings |
| http://purl.obolibrary.org/obo/UBERON_0007265 | intervertebral disk of axis |
| http://purl.obolibrary.org/obo/UBERON_0007252 | intervertebral disk of cervical vertebra |
| http://purl.obolibrary.org/obo/CHEBI_32508 | glycinate |
| http://purl.obolibrary.org/obo/CHEBI_32507 | glycinium |
| http://purl.obolibrary.org/obo/UBERON_0019255 | lower eyelash |
| http://purl.obolibrary.org/obo/UBERON_0019254 | upper eyelash |
| http://purl.obolibrary.org/obo/PR_P11413 | glucose-6-phosphate 1-dehydrogenase (human) |
| http://purl.obolibrary.org/obo/PR_000007749 | glucose-6-phosphate 1-dehydrogenase |
| http://purl.obolibrary.org/obo/UBERON_0007279 | presumptive atrioventricular canal |
| http://purl.obolibrary.org/obo/UBERON_0007277 | presumptive hindbrain |
| http://purl.obolibrary.org/obo/UBERON_0007278 | presumptive sinus venosus |
| HP:0000559 | Corneal scarring |
| HP:0000557 | Buphthalmos |
| HP:0000558 | Rieger anomaly |
| HP:0012534 | Dysesthesia |
| HP:0012533 | Allodynia |
| HP:0012532 | Chronic pain |
| HP:0012530 | Abnormal number of dense granules |
| HP:0012538 | Gluten intolerance |
| HP:0012536 | Maternal anticardiolipin antibody positive |
| http://purl.obolibrary.org/obo/UBERON_0007204 | brachiocephalic vasculature |
| http://purl.obolibrary.org/obo/UBERON_0010850 | tibia pre-cartilage condensation |
| HP:0000555 | Leukocoria |
| HP:0000552 | Tritanomaly |
| http://purl.obolibrary.org/obo/UBERON_0010852 | fibula pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0005259 | lower leg mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010851 | fibula cartilage element |
| HP:0000550 | Undetectable electroretinogram |
| http://purl.obolibrary.org/obo/UBERON_0009879 | tarsal skeleton |
| HP:0012546 | Skewed maternal X inactivation |
| HP:0012545 | Reduced aldolase level |
| HP:0012544 | Elevated aldolase level |
| HP:0012400 | Abnormal aldolase level |
| HP:0012543 | Hemosiderinuria |
| HP:0012542 | Onychauxis |
| http://purl.obolibrary.org/obo/CHEBI_32529 | histidinate(1-) |
| HP:0012541 | Cephalohematoma |
| HP:0012540 | Axillary epidermoid cyst |
| HP:0012549 | Conjunctival lipoma |
| http://purl.obolibrary.org/obo/CHEBI_32532 | histidinium(2+) |
| HP:0012548 | Fatty replacement of skeletal muscle |
| http://purl.obolibrary.org/obo/UBERON_0034876 | future neurohypophysis |
| http://purl.obolibrary.org/obo/UBERON_0034875 | future pituitary gland |
| http://purl.obolibrary.org/obo/CHEBI_32531 | histidinium(1+) |
| http://purl.obolibrary.org/obo/UBERON_0034878 | prechordal mesoderm |
| HP:0000564 | Lacrimal duct atresia |
| http://purl.obolibrary.org/obo/CHEBI_32530 | histidinate(2-) |
| http://purl.obolibrary.org/obo/UBERON_0007214 | mesenchyme derived from trunk neural crest |
| http://purl.obolibrary.org/obo/UBERON_0009871 | nephrogenic zone |
| HP:0000563 | Keratoconus |
| http://purl.obolibrary.org/obo/UBERON_0034874 | air in respiratory system |
| http://purl.obolibrary.org/obo/UBERON_0034947 | gas in respiratory system |
| http://purl.obolibrary.org/obo/UBERON_0034873 | bodily gas |
| http://purl.obolibrary.org/obo/UBERON_0007228 | vestibular nucleus |
| HP:0012557 | EEG with centrotemporal focal spike waves |
| http://purl.obolibrary.org/obo/UBERON_0019206 | tongue papilla epithelium |
| http://purl.obolibrary.org/obo/PATO_0001201 | Y-shaped |
| HP:0012556 | Hyperbetaalaninemia |
| http://purl.obolibrary.org/obo/UBERON_0019204 | skin epithelium |
| HP:0012555 | Absent nail of hallux |
| HP:0012554 | Absent thumbnail |
| HP:0012553 | Hypoplastic thumbnail |
| HP:0012552 | Increased neutrophil nuclear projections |
| http://purl.obolibrary.org/obo/UBERON_0019200 | skin of anterior chest |
| HP:0012550 | Colonic varices |
| http://purl.obolibrary.org/obo/UBERON_0009881 | anterior lateral plate mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0009880 | carpal skeleton |
| http://purl.obolibrary.org/obo/UBERON_0009878 | mesopodial skeleton |
| http://purl.obolibrary.org/obo/CHEBI_32565 | lysinium(2+) |
| HP:0012559 | Increased T3/T4 ratio |
| http://purl.obolibrary.org/obo/UBERON_0019207 | chorioretinal region |
| http://purl.obolibrary.org/obo/UBERON_0009887 | interlobar vein |
| http://purl.obolibrary.org/obo/CHEBI_32564 | lysinium(1+) |
| http://purl.obolibrary.org/obo/UBERON_0009889 | secondary heart field |
| http://purl.obolibrary.org/obo/CHEBI_32563 | lysinate |
| HP:0000576 | Centrocecal scotoma |
| http://purl.obolibrary.org/obo/UBERON_0009883 | medullary ray |
| http://purl.obolibrary.org/obo/UBERON_0007223 | osseus cochlea |
| HP:0000574 | Thick eyebrow |
| http://purl.obolibrary.org/obo/UBERON_0009885 | interlobar artery |
| http://purl.obolibrary.org/obo/UBERON_0007220 | late embryonic stage |
| HP:0012560 | Decreased T3/T4 ratio |
| HP:0012558 | Abnormal T3/T4 ratio |
| HP:0012568 | Lower eyelid edema |
| HP:0012567 | Premature epimetaphyseal fusion in ulna |
| HP:0012566 | Premature epimetaphyseal fusion in radius |
| HP:0012565 | Premature epimetaphyseal fusion in fibula |
| HP:0012564 | Premature epimetaphyseal fusion in tibia |
| HP:0012563 | Premature epimetaphyseal fusion in foot |
| HP:0012562 | Premature epimetaphyseal fusion in hand |
| HP:0012561 | Unicuspid aortic valve |
| http://www.informatics.jax.org/marker/MGI:95674 | Gcg (mouse) |
| HP:0012569 | Delayed menarche |
| http://purl.obolibrary.org/obo/UBERON_0007237 | 1st arch mandibular component |
| HP:0000588 | Optic nerve coloboma |
| http://purl.obolibrary.org/obo/UBERON_0007238 | 1st arch maxillary component |
| HP:0000586 | Shallow orbits |
| HP:0000520 | Proptosis |
| http://purl.obolibrary.org/obo/UBERON_0010887 | tragus |
| HP:0000584 | Punctate corneal epithelial erosions |
| HP:0000585 | Band keratopathy |
| HP:0000582 | Upslanted palpebral fissure |
| http://www.informatics.jax.org/marker/MGI:95494 | Fcer1a (mouse) |
| http://www.informatics.jax.org/marker/MGI:95499 | Fcgr2 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0009847 | prostate field |
| http://purl.obolibrary.org/obo/UBERON_0009843 | prostate epithelial cord |
| http://purl.obolibrary.org/obo/UBERON_0009845 | urogenital sinus mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0009844 | urogenital sinus lumen |
| http://purl.obolibrary.org/obo/UBERON_0009857 | cavum septum pellucidum |
| http://purl.obolibrary.org/obo/UBERON_0009859 | endosteum |
| http://purl.obolibrary.org/obo/UBERON_0010847 | ulna pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010846 | radius pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010844 | clavicle pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010849 | tibia cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010848 | radius-ulna cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010843 | clavicle cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010842 | calcaneum cartilage element |
| HP:0010077 | Broad distal phalanx of the hallux |
| HP:0010078 | Bullet-shaped distal phalanx of the hallux |
| HP:0010079 | Curved distal phalanx of the hallux |
| HP:0009094 | Cleft lower alveolar ridge |
| HP:0009092 | Progressive alveolar ridge hypertropy |
| HP:0010070 | Curved 1st metatarsal |
| HP:0010071 | Osteolytic defects of the 1st metatarsal |
| HP:0010072 | Patchy sclerosis of the 1st metatarsal |
| HP:0100945 | Sclerosis of the 1st metatarsal |
| HP:0009098 | Chronic oral candidiasis |
| HP:0010074 | Triangular shaped 1st metatarsal |
| HP:0009088 | Speech articulation difficulties |
| http://purl.obolibrary.org/obo/CHEBI_17325 | 3-hydroxy-3-methylglutarate(2-) |
| HP:0010086 | Broad proximal phalanx of the hallux |
| http://purl.obolibrary.org/obo/CHEBI_78298 | environmental contaminant |
| HP:0010087 | Bullet-shaped proximal phalanx of the hallux |
| HP:0010088 | Curved proximal phalanx of the hallux |
| HP:0010089 | Osteolytic defects of the proximal phalanx of the hallux |
| HP:0010080 | Osteolytic defects of the distal phalanx of the hallux |
| HP:0010081 | Patchy sclerosis of the distal phalanx of the hallux |
| HP:0100944 | Sclerosis of the distal phalanx of the hallux |
| http://purl.obolibrary.org/obo/CHEBI_32926 | octadecane |
| HP:0010082 | Symphalangism affecting the distal phalanx of the hallux |
| HP:0010083 | Triangular shaped distal phalanx of the hallux |
| http://purl.obolibrary.org/obo/CHEBI_17336 | all-trans-retinol |
| http://purl.obolibrary.org/obo/CHEBI_50211 | retinol |
| HP:0010097 | Partial duplication of the distal phalanx of the hallux |
| HP:0010098 | Complete duplication of the 1st metatarsal |
| HP:0010099 | Partial duplication of the 1st metatarsal |
| HP:0010075 | Duplication of the 1st metatarsal |
| HP:0010090 | Patchy sclerosis of the proximal phalanx of the hallux |
| HP:0100943 | Sclerosis of the proximal phalanx of the hallux |
| HP:0010092 | Triangular shaped proximal phalanx of the hallux |
| HP:0010094 | Complete duplication of the proximal phalanx of the hallux |
| HP:0010095 | Partial duplication of the proximal phalanx of the hallux |
| HP:0010093 | Duplication of the proximal phalanx of the hallux |
| HP:0010096 | Complete duplication of the distal phalanx of the hallux |
| HP:0010084 | Duplication of the distal phalanx of the hallux |
| http://purl.obolibrary.org/obo/CHEBI_32964 | ornithinate |
| http://purl.obolibrary.org/obo/UBERON_0010801 | calcaneum pre-cartilage condensation |
| HP:0000705 | Amelogenesis imperfecta |
| http://purl.obolibrary.org/obo/CL_0000862 | suppressor macrophage |
| http://purl.obolibrary.org/obo/CL_0000861 | elicited macrophage |
| HP:0000700 | Periapical bone loss |
| http://purl.obolibrary.org/obo/CL_0000860 | classical monocyte |
| http://purl.obolibrary.org/obo/CHEBI_8386 | pregnane |
| http://purl.obolibrary.org/obo/CL_0000896 | activated CD4-positive, alpha-beta T cell |
| http://purl.obolibrary.org/obo/CL_0000895 | naive thymus-derived CD4-positive, alpha-beta T cell |
| http://purl.obolibrary.org/obo/CL_0000894 | DN1 thymic pro-T cell |
| http://purl.obolibrary.org/obo/CL_0000889 | myeloid suppressor cell |
| http://purl.obolibrary.org/obo/CL_0000891 | foam cell |
| http://purl.obolibrary.org/obo/GO_0003978 | Defective GALE does not epimerise UDP-Gal to UDP-Glc |
| HP:0000636 | Upper eyelid coloboma |
| HP:0000637 | Long palpebral fissure |
| HP:0000634 | Impaired ocular abduction |
| HP:0000635 | Blue irides |
| HP:0012611 | Increased urinary urate |
| http://purl.obolibrary.org/obo/UBERON_0019189 | carotid artery endothelium |
| HP:0012619 | Multiple bladder diverticula |
| HP:0012618 | Urachal cyst |
| HP:0012617 | Erythrocyte cylindruria |
| HP:0012616 | Leukocyte cylindruria |
| HP:0012613 | Increased urinary sulfate |
| http://purl.obolibrary.org/obo/UBERON_0019190 | mucous gland of lung |
| HP:0000633 | Decreased lacrimation |
| http://purl.obolibrary.org/obo/UBERON_0019198 | dorsal nerve of clitoris |
| http://purl.obolibrary.org/obo/UBERON_0019197 | dorsal nerve of penis |
| http://purl.obolibrary.org/obo/UBERON_0019196 | iliac artery endothelium |
| HP:0000647 | Sclerocornea |
| HP:0000646 | Amblyopia |
| HP:0012623 | Stage 1 chronic kidney disease |
| http://purl.obolibrary.org/obo/PATO_0001333 | temporally extended |
| HP:0012621 | Persistent cloaca |
| HP:0012629 | Phakodonesis |
| HP:0012628 | Abnormal suspensory ligament of lens morphology |
| HP:0012627 | Pseudoexfoliation |
| HP:0012626 | Stage 4 chronic kidney disease |
| HP:0012625 | Stage 3 chronic kidney disease |
| HP:0012624 | Stage 2 chronic kidney disease |
| HP:0000643 | Blepharospasm |
| HP:0000658 | Eyelid apraxia |
| HP:0000659 | Peters anomaly |
| HP:0000657 | Oculomotor apraxia |
| HP:0012634 | Iris pigment dispersion |
| HP:0012631 | Pigment deposition in the trabecular meshwork |
| HP:0012630 | Abnormal trabecular meshwork morphology |
| http://purl.obolibrary.org/obo/CL_0000912 | helper T cell |
| HP:0012637 | Renal calcium wasting |
| HP:0012635 | Iris hypoperfusion |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0000652 | Lower eyelid coloboma |
| HP:0000650 | Abnormal amplitude of pattern reversal visual evoked potentials |
| HP:0000651 | Diplopia |
| HP:0000667 | Phthisis bulbi |
| HP:0000668 | Hypodontia |
| HP:0012645 | Enlarged peripheral nerve |
| HP:0012644 | Increased caudate lactate level |
| http://purl.obolibrary.org/obo/CL_0000906 | activated CD8-positive, alpha-beta T cell |
| HP:0012642 | Cerebellar agenesis |
| HP:0012641 | Decreased intracranial pressure |
| HP:0012640 | Abnormality of intracranial pressure |
| http://purl.obolibrary.org/obo/PATO_0001354 | translucent |
| http://purl.obolibrary.org/obo/CL_0000900 | naive thymus-derived CD8-positive, alpha-beta T cell |
| http://purl.obolibrary.org/obo/CL_0000898 | naive T cell |
| HP:0012648 | Decreased inflammatory response |
| HP:0012646 | Retractile testis |
| http://purl.obolibrary.org/obo/CL_0000908 | CD8-positive, alpha-beta cytokine secreting effector T cell |
| HP:0000664 | Synophrys |
| HP:0000661 | Palpebral fissure narrowing on adduction |
| HP:0000660 | Lipemia retinalis |
| http://purl.obolibrary.org/obo/UBERON_0019143 | intramuscular adipose tissue |
| http://purl.obolibrary.org/obo/GO_1905747 | negative regulation of saliva secretion |
| http://purl.obolibrary.org/obo/CL_0000937 | pre-natural killer cell |
| http://purl.obolibrary.org/obo/CL_0000936 | early lymphoid progenitor |
| http://purl.obolibrary.org/obo/PATO_0001394 | diploid |
| http://purl.obolibrary.org/obo/UBERON_0007160 | inferior petrosal sinus |
| HP:0000607 | Periorbital wrinkles |
| HP:0000603 | Central scotoma |
| HP:0000601 | Hypotelorism |
| HP:0000609 | Optic nerve hypoplasia |
| http://purl.obolibrary.org/obo/PATO_0001375 | haploid |
| http://purl.obolibrary.org/obo/PATO_0001393 | euploid |
| http://purl.obolibrary.org/obo/PATO_0001374 | ploidy |
| http://purl.obolibrary.org/obo/UBERON_0007174 | medial border of scapula |
| http://purl.obolibrary.org/obo/UBERON_0007175 | inferior angle of scapula |
| http://purl.obolibrary.org/obo/UBERON_0007172 | angle of scapula |
| http://purl.obolibrary.org/obo/UBERON_0007173 | lateral border of scapula |
| http://purl.obolibrary.org/obo/UBERON_0007171 | border of scapula |
| http://purl.obolibrary.org/obo/UBERON_0007177 | lamina propria of mucosa of colon |
| HP:0000619 | Impaired convergence |
| HP:0000612 | Iris coloboma |
| HP:0000613 | Photophobia |
| http://purl.obolibrary.org/obo/UBERON_0007181 | serosa of infundibulum of uterine tube |
| http://purl.obolibrary.org/obo/UBERON_0007182 | muscle layer of infundibulum of uterine tube |
| HP:0000629 | Periorbital fullness |
| HP:0000627 | Posterior embryotoxon |
| HP:0000625 | Eyelid coloboma |
| HP:0000623 | Supranuclear ophthalmoplegia |
| HP:0012601 | Hypochloriduria |
| http://purl.obolibrary.org/obo/CL_0000946 | antibody secreting cell |
| HP:0012609 | Hypomagnesiuria |
| http://purl.obolibrary.org/obo/UBERON_0007196 | tracheobronchial tree |
| HP:0012608 | Hypermagnesiuria |
| http://purl.obolibrary.org/obo/UBERON_0007197 | hermaphroditic organism |
| http://purl.obolibrary.org/obo/UBERON_0007195 | stroma of bone marrow |
| HP:0012606 | Renal sodium wasting |
| HP:0012605 | Hypernatriuria |
| HP:0012604 | Hyponatriuria |
| HP:0012603 | Abnormal urine sodium concentration |
| HP:0012602 | Renal chloride wasting |
| HP:0012600 | Abnormal urine chloride concentration |
| HP:0000620 | Dacryocystitis |
| HP:0012692 | Focal T2 hyperintense thalamic lesion |
| HP:0010031 | Patchy sclerosis of the 1st metacarpal |
| HP:0100914 | Sclerosis of the 1st metacarpal |
| HP:0012691 | Focal T2 hypointense thalamic lesion |
| HP:0012690 | T2 hypointense thalamus |
| HP:0010033 | Triangular shaped 1st metacarpal |
| HP:0010034 | Short 1st metacarpal |
| HP:0010035 | Aplasia of the 1st metacarpal |
| HP:0010037 | Aplasia of the 2nd metacarpal |
| HP:0010038 | Short 2nd metacarpal |
| http://purl.obolibrary.org/obo/CHEBI_29214 | sulfonic acid |
| HP:0012699 | Anomaly of lower limb diaphyses |
| HP:0012698 | Cerebellar gliosis |
| HP:0012697 | Small basal ganglia |
| HP:0012696 | Abnormal thalamic MRI signal intensity |
| http://purl.obolibrary.org/obo/CHEBI_32859 | valinate |
| HP:0012695 | Decreased thalamic volume |
| HP:0009054 | Scapuloperoneal myopathy |
| HP:0012694 | Enlarged thalamic volume |
| HP:0012693 | Abnormal thalamic size |
| HP:0010030 | Osteolytic defects of the 1st metacarpal |
| http://purl.obolibrary.org/obo/CHEBI_32867 | D-prolinate |
| HP:0009046 | Difficulty running |
| http://purl.obolibrary.org/obo/CHEBI_32868 | D-prolinium |
| HP:0009045 | Exercise-induced rhabdomyolysis |
| http://purl.obolibrary.org/obo/UBERON_0034726 | trunk taste bud |
| http://purl.obolibrary.org/obo/CHEBI_32862 | L-prolinate |
| http://purl.obolibrary.org/obo/UBERON_0034728 | autonomic nerve |
| http://purl.obolibrary.org/obo/CHEBI_32864 | L-prolinium |
| HP:0009049 | Peroneal muscle atrophy |
| http://purl.obolibrary.org/obo/UBERON_0034721 | pharyngeal taste bud |
| http://purl.obolibrary.org/obo/UBERON_0007128 | glomeral mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0034724 | esophageal taste bud |
| http://purl.obolibrary.org/obo/CHEBI_32860 | valinium |
| http://purl.obolibrary.org/obo/UBERON_0007123 | pharyngeal pouch 2 |
| http://purl.obolibrary.org/obo/UBERON_0007124 | pharyngeal pouch 3 |
| http://purl.obolibrary.org/obo/UBERON_0034720 | head taste bud |
| http://purl.obolibrary.org/obo/UBERON_0007122 | pharyngeal pouch 1 |
| HP:0010043 | Aplasia of the 4th metacarpal |
| HP:0010044 | Short 4th metacarpal |
| HP:0010042 | Aplasia/Hypoplasia of the 4th metacarpal |
| HP:0010046 | Aplasia of the 5th metacarpal |
| HP:0010047 | Short 5th metacarpal |
| HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal |
| HP:0009060 | Scapular muscle atrophy |
| HP:0009064 | Generalized lipodystrophy |
| HP:0009062 | Infantile axial hypotonia |
| HP:0010040 | Aplasia of the 3rd metacarpal |
| HP:0010048 | Aplasia of metacarpal bones |
| HP:0009063 | Progressive distal muscle weakness |
| HP:0010041 | Short 3rd metacarpal |
| HP:0010039 | Aplasia/Hypoplasia of the 3rd metacarpal |
| http://purl.obolibrary.org/obo/UBERON_0034719 | lip taste bud |
| HP:0009058 | Increased muscle lipid content |
| HP:0009055 | Generalized limb muscle atrophy |
| HP:0009056 | Loss of subcutaneous adipose tissue from upper limbs |
| http://purl.obolibrary.org/obo/UBERON_0034715 | pineal tract |
| http://purl.obolibrary.org/obo/UBERON_0034714 | epiphyseal tract |
| http://purl.obolibrary.org/obo/CHEBI_17258 | 7H-purine |
| HP:0009059 | Congenital generalized lipodystrophy |
| http://purl.obolibrary.org/obo/UBERON_0034717 | integumental taste bud |
| http://purl.obolibrary.org/obo/UBERON_0034711 | cortical preplate |
| http://purl.obolibrary.org/obo/UBERON_0034710 | spinal cord ventricular layer |
| http://purl.obolibrary.org/obo/UBERON_0007135 | neural keel |
| HP:0010059 | Broad hallux phalanx |
| HP:0009071 | Inflammatory myopathy |
| HP:0009072 | Decreased Achilles reflex |
| HP:0009073 | Progressive proximal muscle weakness |
| http://purl.obolibrary.org/obo/UBERON_0034708 | cerebellum marginal layer |
| HP:0009069 | Lethal infantile mitochondrial myopathy |
| http://purl.obolibrary.org/obo/UBERON_0007142 | left internal carotid artery |
| HP:0009067 | Progressive spinal muscular atrophy |
| http://purl.obolibrary.org/obo/UBERON_0034709 | hindbrain marginal layer |
| http://purl.obolibrary.org/obo/UBERON_0007147 | lumen of midgut |
| http://purl.obolibrary.org/obo/UBERON_0007148 | lumen of hindgut |
| http://purl.obolibrary.org/obo/UBERON_0007143 | right internal carotid artery |
| http://purl.obolibrary.org/obo/UBERON_0007144 | embryonic post-anal tail |
| HP:0010065 | Triangular shaped phalanges of the hallux |
| HP:0010068 | Broad first metatarsal |
| HP:0010069 | Bullet-shaped 1st metatarsal |
| http://www.informatics.jax.org/marker/MGI:95500 | Fcgr3 (mouse) |
| HP:0010060 | Bullet-shaped hallux phalanx |
| HP:0009087 | Posteriorly placed tongue |
| HP:0010061 | Curved hallux phalanx |
| HP:0010062 | Osteolytic defects of the phalanges of the hallux |
| HP:0009084 | Midline notch of upper alveolar ridge |
| HP:0010063 | Patchy sclerosis of hallux phalanx |
| HP:0100930 | Sclerosis of hallux phalanx |
| HP:0009077 | Weakness of long finger extensor muscles |
| http://purl.obolibrary.org/obo/CHEBI_32879 | propane |
| http://purl.obolibrary.org/obo/UBERON_0007151 | mitral valve leaflet |
| http://purl.obolibrary.org/obo/CHEBI_32872 | prolinium |
| http://purl.obolibrary.org/obo/UBERON_0007158 | lumen of anal canal |
| http://purl.obolibrary.org/obo/CHEBI_32871 | prolinate |
| http://purl.obolibrary.org/obo/UBERON_0007159 | lumen of colon |
| http://purl.obolibrary.org/obo/UBERON_0007156 | inferior thyroid vein |
| HP:0000678 | Dental crowding |
| HP:0000679 | Taurodontia |
| HP:0012656 | Reduced CSF dopamine level |
| HP:0012655 | Elevated CSF dopamine level |
| HP:0012654 | Abnormal CSF dopamine level |
| HP:0012653 | Status asthmaticus |
| HP:0012652 | Exercise-induced asthma |
| HP:0012651 | Abasia |
| http://www.informatics.jax.org/marker/MGI:104768 | Gast (mouse) |
| HP:0009002 | Loss of truncal subcutaneous adipose tissue |
| HP:0009003 | Increased subcutaneous truncal adipose tissue |
| HP:0012659 | Prefrontal hypometabolism in FDG PET |
| HP:0009007 | Biceps hypoplasia |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| http://purl.obolibrary.org/obo/UBERON_0034766 | glabella region |
| http://purl.obolibrary.org/obo/UBERON_0009744 | lymph node medullary sinus |
| http://purl.obolibrary.org/obo/UBERON_0034765 | glabella skin |
| HP:0000677 | Oligodontia |
| http://purl.obolibrary.org/obo/UBERON_0009745 | lymph node medullary cord |
| HP:0000675 | Macrodontia of permanent maxillary central incisor |
| http://purl.obolibrary.org/obo/UBERON_0034762 | areolar sweat gland |
| HP:0000670 | Carious teeth |
| http://purl.obolibrary.org/obo/UBERON_0034763 | hindbrain commissure |
| http://purl.obolibrary.org/obo/UBERON_0009758 | abdominal ganglion |
| http://purl.obolibrary.org/obo/UBERON_0007134 | trunk ganglion |
| HP:0012667 | Regional left ventricular wall motion abnormality |
| HP:0012666 | Severely reduced ejection fraction |
| HP:0012665 | Moderately reduced ejection fraction |
| HP:0012663 | Mildly reduced ejection fraction |
| HP:0012664 | Reduced ejection fraction |
| HP:0009020 | Exercise-induced muscle fatigue |
| HP:0012662 | Parietal hypometabolism in FDG PET |
| HP:0012661 | Hypothalamic hypometabolism in FDG PET |
| HP:0012660 | Thalamic hypometabolism in FDG PET |
| HP:0012658 | Abnormal brain FDG positron emission tomography |
| HP:0012657 | Abnormal brain positron emission tomography |
| HP:0009013 | Congenital absence of gluteal muscles |
| http://purl.obolibrary.org/obo/UBERON_0010747 | body of ilium |
| HP:0000680 | Delayed eruption of primary teeth |
| http://purl.obolibrary.org/obo/UBERON_0010746 | iliac blade |
| HP:0009011 | Hypoplasia of serratus anterior muscle |
| http://purl.obolibrary.org/obo/UBERON_0010745 | sacral vertebra cartilage element |
| HP:0009017 | Loss of gluteal subcutaneous adipose tissue |
| HP:0012669 | Carotid sinus syncope |
| HP:0012668 | Vasovagal syncope |
| HP:0009019 | Progressive loss of facial adipose tissue |
| HP:0000292 | Loss of facial adipose tissue |
| http://purl.obolibrary.org/obo/PR_P25918 | B-lymphocyte antigen CD19 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0010744 | sacral vertebra pre-cartilage condensation |
| HP:0000683 | Grayish enamel |
| http://purl.obolibrary.org/obo/UBERON_0010743 | meningeal cluster |
| http://purl.obolibrary.org/obo/UBERON_0009752 | pancreas mesenchyme |
| HP:0012670 | Orthostatic syncope |
| HP:0010015 | Absent epiphysis of the 1st metacarpal |
| HP:0010016 | Bracket epiphysis of the 1st metacarpal |
| HP:0012678 | Iron accumulation in substantia nigra |
| HP:0012677 | Iron accumulation in globus pallidus |
| HP:0012676 | Copper accumulation in brain |
| HP:0012675 | Iron accumulation in brain |
| HP:0009031 | Amyotrophy of ankle musculature |
| HP:0012674 | Aplasia of the lower vagina |
| HP:0012673 | Aplasia of the upper vagina |
| http://www.informatics.jax.org/marker/MGI:95559 | Flt3 (mouse) |
| HP:0012672 | Akinetic mutism |
| HP:0012671 | Abulia |
| HP:0009028 | Generalized weakness of limb muscles |
| HP:0009026 | Hypoplasia of latissimus dorsi muscle |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0012679 | Widened interpedicular distance |
| HP:0010017 | Cone-shaped epiphysis of the 1st metacarpal |
| http://purl.obolibrary.org/obo/UBERON_0010751 | squamous part of temporal bone primordium |
| HP:0010018 | Enlarged epiphysis of the 1st metacarpal |
| HP:0010019 | Fragmentation of the epiphysis of the 1st metacarpal |
| HP:0000694 | Shell teeth |
| HP:0000695 | Natal tooth |
| http://purl.obolibrary.org/obo/UBERON_0010753 | lymph node secondary follicle |
| HP:0010020 | Irregular epiphysis of the 1st metacarpal |
| HP:0010021 | Ivory epiphysis of the 1st metacarpal |
| HP:0010022 | Pseudoepiphysis of the 1st metacarpal |
| HP:0010023 | Small epiphysis of the 1st metacarpal |
| HP:0010024 | Epiphyseal stippling of the first metacarpal |
| HP:0010025 | Triangular epiphysis of the 1st metacarpal |
| HP:0010014 | Abnormality of the epiphysis of the 1st metacarpal |
| HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal |
| http://purl.obolibrary.org/obo/UBERON_0007118 | umbilicus |
| HP:0010027 | Broad 1st metacarpal |
| http://purl.obolibrary.org/obo/UBERON_0007119 | neck of femur |
| HP:0012689 | Abnormal pineal melatonin secretion |
| HP:0012688 | Abnormality of pineal physiology |
| HP:0012687 | Agenesis of pineal gland |
| HP:0012686 | Increased pineal volume |
| HP:0012685 | Decreased pineal volume |
| HP:0009042 | Marked muscular hypertrophy |
| HP:0012684 | Abnormal pineal volume |
| http://purl.obolibrary.org/obo/CHEBI_17272 | propionate |
| HP:0012683 | Pineal cyst |
| HP:0012682 | Pineal gland calcification |
| HP:0012681 | Abnormality of pineal morphology |
| HP:0012680 | Abnormality of the pineal gland |
| http://purl.obolibrary.org/obo/UBERON_0034736 | coracoclavicular ligament |
| HP:0009037 | Segmental spinal muscular atrophy |
| HP:0010028 | Bullet-shaped 1st metacarpal |
| http://purl.obolibrary.org/obo/UBERON_0007116 | primary dentition |
| HP:0010029 | Curved 1st metacarpal |
| http://purl.obolibrary.org/obo/UBERON_0010760 | supraglenoid tubercle |
| http://purl.obolibrary.org/obo/UBERON_0009778 | pleural sac |
| http://purl.obolibrary.org/obo/UBERON_0034730 | olfactory tract linking bulb to ipsilateral dorsal telencephalon |
| http://purl.obolibrary.org/obo/UBERON_0009708 | dorsal pancreas |
| http://purl.obolibrary.org/obo/UBERON_0009709 | ventral pancreas |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3358 | ENPP3 (human) |
| http://purl.obolibrary.org/obo/UBERON_0009715 | stomodeal lumen |
| http://purl.obolibrary.org/obo/UBERON_0009714 | intermaxillary process |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3349 | ENG (human) |
| http://purl.obolibrary.org/obo/UBERON_0010703 | forelimb zeugopod skeleton |
| http://purl.obolibrary.org/obo/PR_O54990 | prominin-1 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0010708 | pectoral complex |
| http://purl.obolibrary.org/obo/UBERON_0009713 | endocardium of left ventricle |
| http://purl.obolibrary.org/obo/UBERON_0009712 | endocardium of right ventricle |
| http://purl.obolibrary.org/obo/UBERON_0010709 | pelvic complex |
| http://purl.obolibrary.org/obo/UBERON_0010707 | appendage girdle complex |
| http://purl.obolibrary.org/obo/UBERON_0010714 | iliac cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010718 | pubic cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0009722 | entire pharyngeal arch endoderm |
| http://purl.obolibrary.org/obo/GO_0015893 | drug transport |
| http://purl.obolibrary.org/obo/UBERON_0010728 | sphenoid lesser wing pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010720 | hindlimb zeugopod skeleton |
| http://purl.obolibrary.org/obo/PR_Q8CHR6 | dihydropyrimidine dehydrogenase [NADP(+)] (mouse) |
| HP:0010191 | Symphalangism affecting the distal phalanges of the toes |
| http://purl.obolibrary.org/obo/CHEBI_32816 | pyruvic acid |
| http://purl.obolibrary.org/obo/CHEBI_17203 | L-proline |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3336 | ADGRE1 (human) |
| http://purl.obolibrary.org/obo/CHEBI_32837 | L-serinium |
| http://purl.obolibrary.org/obo/CHEBI_32841 | D-serinium |
| http://purl.obolibrary.org/obo/CHEBI_32846 | serinium |
| http://purl.obolibrary.org/obo/CHEBI_32840 | D-serinate |
| http://purl.obolibrary.org/obo/PR_P49715 | CCAAT/enhancer-binding protein alpha (human) |
| http://purl.obolibrary.org/obo/CHEBI_32833 | threoninium |
| http://purl.obolibrary.org/obo/CHEBI_32836 | L-serinate |
| http://purl.obolibrary.org/obo/CHEBI_32845 | serinate |
| http://purl.obolibrary.org/obo/CHEBI_32832 | threoninate |
| http://www.informatics.jax.org/marker/MGI:95392 | Eng (mouse) |
| HP:0000804 | Xanthine nephrolithiasis |
| HP:0000802 | Impotence |
| HP:0000800 | Cystic renal dysplasia |
| HP:0000807 | Glandular hypospadias |
| HP:0000808 | Penoscrotal hypospadias |
| HP:0000817 | Poor eye contact |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0000135 | Hypogonadism |
| HP:0000813 | Bicornuate uterus |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| http://purl.obolibrary.org/obo/CL_1001005 | glomerular capillary endothelial cell |
| http://purl.obolibrary.org/obo/CL_0002188 | glomerular endothelial cell |
| http://purl.obolibrary.org/obo/CL_0000666 | fenestrated cell |
| HP:0012807 | High insertion of columella |
| HP:0012806 | Proboscis |
| HP:0012805 | Iris transillumination defect |
| HP:0012803 | Anisometropia |
| HP:0012802 | Broad jaw |
| HP:0012801 | Narrow jaw |
| HP:0012800 | Accessory cranial suture |
| HP:0012809 | Narrow nasal base |
| http://purl.obolibrary.org/obo/CL_0000775 | neutrophil |
| http://purl.obolibrary.org/obo/CL_0000771 | eosinophil |
| http://purl.obolibrary.org/obo/CL_0000767 | basophil |
| http://purl.obolibrary.org/obo/CL_0000094 | granulocyte |
| http://purl.obolibrary.org/obo/CL_0000765 | erythroblast |
| http://purl.obolibrary.org/obo/CL_0000762 | nucleated thrombocyte |
| http://purl.obolibrary.org/obo/CL_0000795 | CD8-positive, alpha-beta regulatory T cell |
| http://purl.obolibrary.org/obo/GO_0003868 | 4-hydroxyphenylpyruvate dioxygenase activity |
| http://purl.obolibrary.org/obo/CL_1001045 | kidney cortex artery cell |
| http://purl.obolibrary.org/obo/CL_0000783 | multinucleated phagocyte |
| http://purl.obolibrary.org/obo/GO_0003857 | (24R, 25R) 3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoA is oxidized to 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-one-CoA |
| http://purl.obolibrary.org/obo/CL_0000792 | CD4-positive, CD25-positive, alpha-beta regulatory T cell |
| http://purl.obolibrary.org/obo/CL_1001052 | kidney cortex vein cell |
| HP:0000757 | Lack of insight |
| http://purl.obolibrary.org/obo/PATO_0001469 | curved ventral |
| HP:0000758 | Impaired use of nonverbal behaviors |
| HP:0000756 | Agoraphobia |
| HP:0012731 | Ectopic anterior pituitary gland |
| http://purl.obolibrary.org/obo/PATO_0001468 | curved dorsal |
| HP:0012730 | Aglossia |
| HP:0012739 | Agenesis of the small intestine |
| HP:0012738 | Agenesis of canine |
| HP:0012737 | Small intestinal polyp |
| HP:0012736 | Profound global developmental delay |
| HP:0012734 | Ketotic hypoglycemia |
| HP:0000753 | Autism with high cognitive abilities |
| HP:0000751 | Personality changes |
| http://purl.obolibrary.org/obo/UBERON_0034670 | palatal taste bud |
| http://purl.obolibrary.org/obo/UBERON_0034722 | mouth roof taste bud |
| HP:0012744 | Femoral aplasia |
| HP:0012743 | Abdominal obesity |
| HP:0012742 | Thin fingernail |
| HP:0012741 | Unilateral cryptorchidism |
| http://www.informatics.jax.org/marker/MGI:104616 | Ccr3 (mouse) |
| http://purl.obolibrary.org/obo/PATO_0001450 | edematous |
| http://purl.obolibrary.org/obo/PATO_0001453 | detached from |
| http://purl.obolibrary.org/obo/UBERON_0007098 | mandibular neural crest |
| HP:0012749 | Focal T2 hypointense brainstem lesion |
| HP:0012748 | Focal T2 hyperintense brainstem lesion |
| HP:0012746 | Thin toenail |
| http://purl.obolibrary.org/obo/UBERON_0007099 | hyoid neural crest |
| HP:0000778 | Hypoplasia of the thymus |
| HP:0012755 | Enlarged brainstem |
| HP:0012754 | CNS hypermyelination |
| HP:0012753 | T2 hypointense basal ganglia |
| HP:0012752 | Focal T2 hypointense basal ganglia lesion |
| HP:0012750 | T2 hypointense brainstem |
| HP:0012747 | Abnormal brainstem MRI signal intensity |
| http://purl.obolibrary.org/obo/PATO_0001483 | aplastic |
| HP:0009101 | Submucous cleft lip |
| HP:0009102 | Anterior open-bite malocclusion |
| HP:0000689 | Dental malocclusion |
| HP:0009100 | Thick anterior alveolar ridges |
| HP:0009085 | Alveolar ridge overgrowth |
| HP:0012756 | CSF polymorphonuclear pleocytosis |
| HP:0009109 | Denervation of the diaphragm |
| HP:0000774 | Narrow chest |
| HP:0000771 | Gynecomastia |
| HP:0010100 | Complete duplication of hallux phalanx |
| HP:0010101 | Partial duplication of the phalanges of the hallux |
| HP:0010066 | Duplication of phalanx of hallux |
| HP:0010102 | Aplasia of the distal phalanx of the hallux |
| HP:0010103 | Short distal phalanx of hallux |
| HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux |
| HP:0010104 | Absent first metatarsal |
| HP:0010067 | Aplasia/hypoplasia of the 1st metatarsal |
| HP:0012766 | Widened cerebral subarachnoid space |
| http://purl.obolibrary.org/obo/PATO_0001477 | retracted |
| HP:0012765 | Widened cerebellar subarachnoid space |
| HP:0012764 | Orthopnea |
| HP:0012763 | Paroxysmal dyspnea |
| http://purl.obolibrary.org/obo/CHEBI_17196 | L-asparagine |
| http://purl.obolibrary.org/obo/PATO_0001473 | duplicated |
| HP:0012761 | Absent mastoid |
| http://purl.obolibrary.org/obo/PATO_0001472 | decreased depth |
| HP:0012760 | Impaired social reciprocity |
| http://purl.obolibrary.org/obo/PATO_0001474 | anteverted |
| HP:0009112 | Aplasia of the left hemidiaphragm |
| HP:0009110 | Diaphragmatic eventration |
| http://purl.obolibrary.org/obo/PATO_0001482 | prominent |
| HP:0012768 | Neonatal asphyxia |
| HP:0002643 | Neonatal respiratory distress |
| HP:0000786 | Primary amenorrhea |
| HP:0010105 | Short first metatarsal |
| HP:0010106 | Aplasia of the proximal phalanx of the hallux |
| HP:0010107 | Short proximal phalanx of hallux |
| HP:0010085 | Aplasia/Hypoplasia of the proximal phalanx of the hallux |
| HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses |
| HP:0000717 | Autism |
| http://purl.obolibrary.org/obo/CL_0000811 | CD8-positive, alpha-beta thymocyte |
| http://purl.obolibrary.org/obo/CL_0000810 | CD4-positive, alpha-beta thymocyte |
| HP:0000716 | Depressivity |
| HP:0000713 | Agitation |
| http://purl.obolibrary.org/obo/UBERON_0010690 | manual digit 1 epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005227 | manual digit epithelium |
| HP:0000712 | Emotional lability |
| http://purl.obolibrary.org/obo/CL_0000817 | precursor B cell |
| http://purl.obolibrary.org/obo/CL_0000815 | regulatory T cell |
| http://purl.obolibrary.org/obo/UBERON_0010696 | skeleton of pedal acropodium |
| HP:0000710 | Hyperorality |
| http://purl.obolibrary.org/obo/UBERON_0010693 | pedal digit 1 epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005226 | pedal digit epithelium |
| HP:0000728 | Impaired ability to form peer relationships |
| HP:0000727 | Frontal lobe dementia |
| HP:0000723 | Restrictive behavior |
| http://purl.obolibrary.org/obo/PATO_0001499 | spherical |
| http://purl.obolibrary.org/obo/CL_0000808 | DN4 thymocyte |
| http://purl.obolibrary.org/obo/CL_0000807 | DN3 thymocyte |
| http://purl.obolibrary.org/obo/CL_0000806 | DN2 thymocyte |
| http://purl.obolibrary.org/obo/CL_0000805 | immature single positive thymocyte |
| http://purl.obolibrary.org/obo/PATO_0001495 | notched |
| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS |
| HP:0012707 | Elevated brain lactate level by MRS |
| HP:0012706 | Elevated brain choline level by MRS |
| HP:0012704 | Widened subarachnoid space |
| HP:0012702 | Tenesmus |
| HP:0012701 | Bowel urgency |
| http://purl.obolibrary.org/obo/CL_0000809 | double-positive, alpha-beta thymocyte |
| http://purl.obolibrary.org/obo/CL_0000790 | immature alpha-beta T cell |
| HP:0000720 | Mood swings |
| HP:0000721 | Lack of spontaneous play |
| HP:0012709 | Abnormal brain choline/creatine ratio by MRS |
| HP:0000737 | Irritability |
| http://purl.obolibrary.org/obo/CL_0000831 | mast cell progenitor |
| HP:0012711 | Delayed ossification of vertebral epiphysis |
| HP:0012710 | Ingrown nail |
| http://purl.obolibrary.org/obo/CL_0000837 | hematopoietic multipotent progenitor cell |
| HP:0012717 | Severe conductive hearing impairment |
| HP:0012716 | Moderate conductive hearing impairment |
| HP:0000732 | Inflexible adherence to routines or rituals |
| HP:0000749 | Paroxysmal bursts of laughter |
| HP:0000748 | Inappropriate laughter |
| HP:0000744 | Low frustration tolerance |
| HP:0012721 | Venous malformation |
| http://purl.obolibrary.org/obo/CL_0000829 | basophilic myeloblast |
| http://purl.obolibrary.org/obo/CL_0000835 | myeloblast |
| http://purl.obolibrary.org/obo/CL_0002191 | granulocytopoietic cell |
| http://purl.obolibrary.org/obo/CL_0000828 | thromboblast |
| http://purl.obolibrary.org/obo/CL_0000827 | pro-T cell |
| http://purl.obolibrary.org/obo/CL_0000826 | pro-B cell |
| http://purl.obolibrary.org/obo/CL_0000825 | pro-NK cell |
| http://purl.obolibrary.org/obo/CL_0000838 | lymphoid lineage restricted progenitor cell |
| http://purl.obolibrary.org/obo/CL_0000823 | immature natural killer cell |
| http://purl.obolibrary.org/obo/CL_0000623 | natural killer cell |
| HP:0012729 | Saccular descending thoracic aortic aneurysm |
| HP:0012728 | Fusiform descending thoracic aortic aneurysm |
| HP:0004959 | Descending thoracic aorta aneurysm |
| HP:0012726 | Episodic hypokalemia |
| HP:0002900 | Hypokalemia |
| HP:0012724 | Upper eyelid edema |
| HP:0012723 | Sinoatrial block |
| HP:0000743 | Frontal release signs |
| HP:0000740 | Episodic paroxysmal anxiety |
| HP:0000739 | Anxiety |
| HP:0000741 | Apathy |
| HP:0010152 | Enlarged epiphysis of the 1st metatarsal |
| HP:0010153 | Fragmentation of the epiphysis of the 1st metatarsal |
| HP:0010154 | Irregular epiphysis of the 1st metatarsal |
| HP:0010155 | Ivory epiphysis of the 1st metatarsal |
| HP:0010156 | Pseudoepiphysis of the 1st metatarsal |
| HP:0010157 | Small epiphysis of the 1st metatarsal |
| HP:0010158 | Stippling of the epiphysis of the 1st metatarsal |
| HP:0010159 | Triangular epiphysis of the 1st metatarsal |
| HP:0009170 | Osteolytic defects of the middle phalanx of the 5th finger |
| HP:0009171 | Triangular epiphyses of the metacarpals |
| http://purl.obolibrary.org/obo/CHEBI_17120 | hexanoate |
| HP:0009175 | Patchy sclerosis of the middle phalanx of the 5th finger |
| HP:0100907 | Sclerosis of the middle phalanx of the 5th finger |
| HP:0010150 | Bracket epiphysis of the 1st metatarsal |
| HP:0009173 | Curved middle phalanx of the 5th finger |
| HP:0010151 | Cone-shaped epiphysis of the 1st metatarsal |
| HP:0009167 | Irregular epiphysis of the distal phalanx of the 5th finger |
| HP:0009168 | Bullet-shaped middle phalanx of the 5th finger |
| HP:0009165 | Stippling of the epiphysis of the distal phalanx of the 5th finger |
| HP:0009166 | Fragmentation of the epiphysis of the distal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/CHEBI_17126 | carnitine |
| HP:0009169 | Broad middle phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/UBERON_0009669 | embryonic cloacal lumen |
| http://purl.obolibrary.org/obo/UBERON_0007005 | cardiogenic splanchnic mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0009668 | ventral mesentery |
| http://purl.obolibrary.org/obo/UBERON_0009664 | gut mesentery |
| http://purl.obolibrary.org/obo/PR_P01831 | Thy-1 membrane glycoprotein (mouse) |
| HP:0009180 | Ulnar deviation of the 5th finger |
| HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger |
| http://purl.obolibrary.org/obo/CHEBI_32728 | tryptophanium |
| http://purl.obolibrary.org/obo/CHEBI_32727 | tryptophanate |
| HP:0009186 | Contracture of the metacarpophalangeal joint of the 5th finger |
| HP:0009184 | Contracture of the distal interphalangeal joint of the 5th finger |
| HP:0009183 | Joint contracture of the 5th finger |
| http://purl.obolibrary.org/obo/UBERON_0009670 | rectal lumen |
| http://purl.obolibrary.org/obo/UBERON_0007010 | cleaving embryo |
| HP:0009177 | Proximal/middle symphalangism of 5th finger |
| http://purl.obolibrary.org/obo/CHEBI_17137 | hydrogensulfite |
| http://purl.obolibrary.org/obo/UBERON_0009679 | set of lower jaw teeth |
| http://purl.obolibrary.org/obo/UBERON_0009676 | early telencephalic vesicle |
| http://purl.obolibrary.org/obo/CARO_0000007 | immaterial anatomical entity |
| http://purl.obolibrary.org/obo/PATO_0001408 | ciliatedness |
| http://purl.obolibrary.org/obo/CHEBI_78121 | fatty acid anion 14:0 |
| http://purl.obolibrary.org/obo/PATO_0001407 | mononucleate |
| http://www.informatics.jax.org/marker/MGI:104663 | Lep (mouse) |
| http://purl.obolibrary.org/obo/PATO_0001406 | binucleate |
| http://purl.obolibrary.org/obo/PATO_0001405 | anucleate |
| http://purl.obolibrary.org/obo/PATO_0001400 | unipotent |
| HP:0009190 | Irregular epiphyses of the metacarpals |
| http://purl.obolibrary.org/obo/PATO_0001402 | multipotent |
| HP:0009191 | Ivory epiphyses of the metacarpals |
| http://purl.obolibrary.org/obo/PATO_0001401 | oligopotent |
| http://purl.obolibrary.org/obo/PATO_0001397 | cellular potency |
| HP:0009196 | Absent metacarpal epiphyses |
| HP:0009197 | Bracket epiphysis of the proximal phalanx of the 5th finger |
| HP:0009194 | Small epiphyses of the metacarpals |
| HP:0009195 | Epiphyseal stippling of the metacarpals |
| HP:0009189 | Fragmentation of the metacarpal epiphyses |
| http://purl.obolibrary.org/obo/UBERON_0009680 | set of upper jaw teeth |
| http://purl.obolibrary.org/obo/UBERON_0009678 | tooth row |
| http://purl.obolibrary.org/obo/UBERON_0034926 | anatomical row |
| http://purl.obolibrary.org/obo/UBERON_0007021 | sexually immature organism |
| HP:0009187 | Bracket epiphysis of the distal phalanx of the 5th finger |
| HP:0009188 | Pseudoepiphysis of the distal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/UBERON_0010679 | manual digit 5 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0007026 | presumptive gut |
| http://purl.obolibrary.org/obo/UBERON_0010678 | manual digit 4 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010677 | manual digit 3 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010676 | manual digit 2 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010675 | manual digit 1 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010681 | pedal digit 2 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010680 | pedal digit 1 phalanx cartilage element |
| http://purl.obolibrary.org/obo/CHEBI_78113 | fatty acid anion 3:0 |
| http://purl.obolibrary.org/obo/CHEBI_29103 | potassium(1+) |
| http://purl.obolibrary.org/obo/CHEBI_37247 | elemental potassium |
| http://purl.obolibrary.org/obo/CHEBI_78116 | fatty acid anion 6:0 |
| http://purl.obolibrary.org/obo/UBERON_0009692 | lumen of pharyngotympanic tube |
| HP:0009199 | Irregular epiphysis of the proximal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/CHEBI_17115 | L-serine |
| http://purl.obolibrary.org/obo/CHEBI_29101 | sodium(1+) |
| http://purl.obolibrary.org/obo/CHEBI_37246 | elemental sodium |
| http://purl.obolibrary.org/obo/CHEBI_17113 | erythritol |
| http://purl.obolibrary.org/obo/UBERON_0010684 | pedal digit 5 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010683 | pedal digit 4 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010682 | pedal digit 3 phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010685 | pedal digit phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0009695 | epithelium of laryngopharynx |
| http://purl.obolibrary.org/obo/UBERON_0010688 | skeleton of manual acropodium |
| http://purl.obolibrary.org/obo/UBERON_0010686 | manual digit phalanx cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010701 | phalanx cartilage element |
| HP:0010110 | Aplasia of the phalanges of the hallux |
| HP:0010111 | Short phalanx of hallux |
| HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux |
| HP:0010109 | Short hallux |
| HP:0000799 | Renal steatosis |
| HP:0012775 | Stellate iris |
| HP:0012774 | Increased upper to lower segment ratio |
| HP:0012773 | Reduced upper to lower segment ratio |
| HP:0012772 | Abnormal upper to lower segment ratio |
| HP:0012771 | Increased arm span |
| HP:0012770 | Reduced arm span |
| HP:0012769 | Abnormal arm span |
| http://purl.obolibrary.org/obo/CHEBI_32786 | tyrosinium |
| http://purl.obolibrary.org/obo/CHEBI_32785 | tyrosinate(2-) |
| HP:0012779 | Transient hearing impairment |
| HP:0012778 | Retinal astrocytic hamartoma |
| http://purl.obolibrary.org/obo/UBERON_0009625 | sacral nerve |
| http://purl.obolibrary.org/obo/CHEBI_32784 | tyrosinate(1-) |
| http://purl.obolibrary.org/obo/UBERON_0009624 | lumbar nerve |
| HP:0000793 | Membranoproliferative glomerulonephritis |
| HP:0000794 | IgA deposition in the glomerulus |
| http://purl.obolibrary.org/obo/UBERON_0009621 | tail somite |
| http://purl.obolibrary.org/obo/UBERON_0009638 | orbitosphenoid ossification center |
| http://purl.obolibrary.org/obo/UBERON_0009639 | body of sphenoid |
| HP:0012788 | Reticulate pigmentation of oral mucosa |
| HP:0012787 | Recurrent pyelonephritis |
| HP:0012330 | Pyelonephritis |
| HP:0012786 | Recurrent cystitis |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0012784 | Perinephritis |
| HP:0012783 | Intralobar nephrogenic rest |
| HP:0012782 | Perilobar nephrogenic rest |
| HP:0100880 | Nephrogenic rest |
| HP:0012781 | Mid-frequency hearing loss |
| HP:0012789 | Hypoplasia of the calcaneus |
| HP:0010127 | Absent epiphysis of the proximal phalanx of the hallux |
| HP:0010128 | Bracket epiphysis of the proximal phalanx of the hallux |
| HP:0010129 | Cone-shaped epiphysis of the proximal phalanx of the hallux |
| http://purl.obolibrary.org/obo/UBERON_0009636 | prechordal cartilage |
| HP:0010130 | Enlarged epiphysis of the proximal phalanx of the hallux |
| HP:0010131 | Fragmentation of the epiphysis of the proximal phalanx of the hallux |
| HP:0012790 | Abnormal intramembranous ossification |
| HP:0010132 | Irregular epiphysis of the proximal phalanx of the hallux |
| HP:0010133 | Ivory epiphysis of the proximal phalanx of the hallux |
| http://purl.obolibrary.org/obo/GO_0086103 | G protein-coupled receptor signaling pathway involved in heart process |
| HP:0010134 | Pseudoepiphysis of the proximal phalanx of the hallux |
| HP:0010135 | Small epiphysis of the proximal phalanx of the hallux |
| http://purl.obolibrary.org/obo/PATO_0001447 | calcified |
| http://purl.obolibrary.org/obo/UBERON_0009648 | eyelid subcutaneous connective tissue |
| HP:0010136 | Stippling of the epiphysis of the proximal phalanx of the hallux |
| http://purl.obolibrary.org/obo/PATO_0001449 | cartilaginous |
| HP:0010137 | Triangular epiphysis of the proximal phalanx of the hallux |
| HP:0010126 | Abnormality of the epiphysis of the proximal phalanx of the hallux |
| HP:0012799 | Unilateral facial palsy |
| http://purl.obolibrary.org/obo/PATO_0001444 | broken |
| HP:0012798 | Pulmonary lymphangiomyomatosis |
| http://purl.obolibrary.org/obo/CHEBI_42111 | (R)-lactic acid |
| HP:0012797 | Lymphatic vessel neoplasm |
| HP:0012794 | Periventricular white matter hypodensities |
| HP:0012793 | Kinked brainstem |
| http://purl.obolibrary.org/obo/PATO_0001442 | wholeness |
| HP:0012792 | Absent ossification of thoracic vertebral bodies |
| http://www.informatics.jax.org/marker/MGI:104618 | Ccr1 (mouse) |
| HP:0009149 | Triangular epiphysis of the distal phalanx of the 5th finger |
| HP:0009147 | Enlarged epiphysis of the distal phalanx of the 5th finger |
| HP:0009148 | Small epiphysis of the distal phalanx of the 5th finger |
| HP:0010138 | Absent epiphysis of the distal phalanx of the hallux |
| HP:0010113 | Absent hallux epiphysis |
| http://purl.obolibrary.org/obo/UBERON_0009644 | trachea non-cartilage connective tissue |
| HP:0010139 | Bracket epiphysis of the distal phalanx of the hallux |
| HP:0010114 | Bracket epiphyses of the hallux |
| http://purl.obolibrary.org/obo/UBERON_0009646 | lumbar sympathetic nerve trunk |
| http://purl.obolibrary.org/obo/UBERON_0009640 | hypophyseal cartilage |
| HP:0010141 | Enlarged epiphysis of the distal phalanx of the hallux |
| HP:0010116 | Enlarged epiphyses of the hallux |
| HP:0010142 | Fragmentation of the epiphysis of the distal phalanx of the hallux |
| HP:0010117 | Fragmentation of the epiphyses of the hallux |
| HP:0010143 | Irregular epiphysis of the distal phalanx of the hallux |
| HP:0010118 | Irregular epiphyses of the hallux |
| HP:0010144 | Ivory epiphysis of the distal phalanx of the hallux |
| HP:0010119 | Ivory epiphyses of the hallux |
| HP:0010145 | Pseudoepiphysis of the distal phalanx of the hallux |
| HP:0010120 | Pseudoepiphyses of the hallux |
| HP:0010146 | Small epiphysis of the distal phalanx of the hallux |
| HP:0010121 | Small epiphyses of the hallux |
| HP:0010147 | Stippling of the epiphysis of the distal phalanx of the hallux |
| HP:0010122 | Stippling of the epiphyses of the hallux |
| HP:0010148 | Triangular epiphysis of the distal phalanx of the hallux |
| HP:0010123 | Triangular epiphyses of the hallux |
| HP:0009160 | Absent epiphysis of the proximal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/PATO_0001435 | attachment quality |
| http://purl.obolibrary.org/obo/CHEBI_17151 | xylitol |
| HP:0009162 | Absent middle phalanx of 5th finger |
| HP:0010140 | Cone-shaped epiphysis of the distal phalanx of the hallux |
| HP:0010115 | Cone-shaped epiphyses of the hallux |
| HP:0010124 | Abnormality of the epiphysis of the distal phalanx of the hallux |
| HP:0010053 | Abnormality of the distal phalanx of the hallux |
| HP:0009157 | Ivory epiphysis of the proximal phalanx of the 5th finger |
| HP:0009154 | Triangular epiphysis of the proximal phalanx of the 5th finger |
| HP:0009155 | Cone-shaped epiphysis of the proximal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/CHEBI_32797 | (S)-2-hydroxyglutaric acid |
| http://purl.obolibrary.org/obo/CHEBI_32796 | (R)-2-hydroxyglutaric acid |
| http://purl.obolibrary.org/obo/CHEBI_17084 | 2-hydroxyglutaric acid |
| http://purl.obolibrary.org/obo/CHEBI_50263 | 2-hydroxydicarboxylic acid |
| HP:0009158 | Enlarged epiphysis of the proximal phalanx of the 5th finger |
| HP:0009159 | Small epiphysis of the proximal phalanx of the 5th finger |
| HP:0010149 | Absent epiphysis of the 1st metatarsal |
| HP:0010125 | Abnormality of the epiphysis of the 1st metatarsal |
| HP:0010056 | Abnormality of the epiphyses of the hallux |
| http://purl.obolibrary.org/obo/UBERON_0009652 | bronchus basement membrane |
| http://purl.obolibrary.org/obo/UBERON_0009651 | nephron tubule basement membrane |
| http://purl.obolibrary.org/obo/UBERON_0009653 | trachea basement membrane |
| http://purl.obolibrary.org/obo/CL_0000216 | Sertoli cell |
| http://purl.obolibrary.org/obo/CL_0002625 | seminiferous tubule epithelial cell |
| http://purl.obolibrary.org/obo/CL_0000511 | androgen binding protein secreting cell |
| http://purl.obolibrary.org/obo/CL_0000218 | myelinating Schwann cell |
| http://purl.obolibrary.org/obo/CL_0000217 | insulating cell |
| http://purl.obolibrary.org/obo/CL_0002573 | Schwann cell |
| http://purl.obolibrary.org/obo/CL_0000233 | platelet |
| http://purl.obolibrary.org/obo/CL_0000232 | erythrocyte |
| http://purl.obolibrary.org/obo/CL_0000081 | blood cell |
| http://purl.obolibrary.org/obo/UBERON_0009603 | right lung associated mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0009602 | left lung associated mesenchyme |
| http://purl.obolibrary.org/obo/CL_0000227 | binucleate cell |
| http://purl.obolibrary.org/obo/CL_0000225 | anucleate cell |
| http://purl.obolibrary.org/obo/UBERON_0009616 | presumptive midbrain |
| http://purl.obolibrary.org/obo/UBERON_0009615 | midbrain hindbrain boundary neural plate |
| http://purl.obolibrary.org/obo/CL_0000223 | endodermal cell |
| http://purl.obolibrary.org/obo/UBERON_0009618 | trunk paraxial mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0009617 | head paraxial mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0009611 | midbrain neural plate |
| http://purl.obolibrary.org/obo/UBERON_0009614 | hindbrain neural plate |
| http://purl.obolibrary.org/obo/UBERON_0009610 | forebrain neural plate |
| http://purl.obolibrary.org/obo/CHEBI_17568 | uracil |
| http://purl.obolibrary.org/obo/CHEBI_17578 | toluene |
| http://purl.obolibrary.org/obo/PATO_0001608 | patchy |
| http://purl.obolibrary.org/obo/PATO_0001602 | distended |
| http://purl.obolibrary.org/obo/PATO_0001604 | decreased life span |
| http://purl.obolibrary.org/obo/PATO_0001603 | increased life span |
| http://purl.obolibrary.org/obo/PATO_0001600 | posteriorly rotated |
| http://purl.obolibrary.org/obo/CHEBI_17549 | 5-aminolevulinic acid |
| http://purl.obolibrary.org/obo/CHEBI_17544 | hydrogencarbonate |
| http://purl.obolibrary.org/obo/PATO_0001609 | sparse |
| http://purl.obolibrary.org/obo/CHEBI_17553 | O-phosphoethanolamine |
| HP:0000915 | Pectus excavatum of inferior sternum |
| HP:0000767 | Pectus excavatum |
| HP:0000916 | Broad clavicles |
| HP:0000913 | Posterior rib fusion |
| HP:0000914 | Shield chest |
| HP:0000911 | Flat glenoid fossa |
| HP:0000912 | Congenital elevation of scapula |
| HP:0000910 | Wide-cupped costochondral junctions |
| HP:0000917 | Superior pectus carinatum |
| HP:0000918 | Scapular exostoses |
| http://purl.obolibrary.org/obo/GO_0001501 | skeletal system development |
| HP:0000922 | Posterior rib cupping |
| HP:0000923 | Beaded ribs |
| HP:0000920 | Enlargement of the costochondral junction |
| HP:0012905 | Euryblepharon |
| HP:0012904 | Cold-sensitive myotonia |
| HP:0012903 | Myotonia of the upper limb |
| HP:0012902 | Myotonia of the lower limb |
| HP:0012901 | Myotonia of the jaw |
| HP:0012900 | Myotonia of the face |
| HP:0000938 | Osteopenia |
| HP:0000933 | Posterior fossa cyst at the fourth ventricle |
| HP:0000931 | Thinning and bulging of the posterior fossa bones |
| HP:0000930 | Elevated imprint of the transverse sinuses |
| HP:0000943 | Dysostosis multiplex |
| HP:0000941 | Short diaphyses |
| http://purl.obolibrary.org/obo/PR_Q5UKY4 | cell surface glycoprotein CD200 receptor 3 (mouse) |
| http://purl.obolibrary.org/obo/GO_0001573 | ganglioside metabolic process |
| HP:0000905 | Progressive clavicular acroosteolysis |
| HP:0000902 | Rib fusion |
| HP:0000900 | Thickened ribs |
| HP:0000907 | Anterior rib cupping |
| http://purl.obolibrary.org/obo/GO_0001558 | regulation of cell growth |
| HP:0000878 | 11 pairs of ribs |
| HP:0000879 | Short sternum |
| HP:0000876 | Oligomenorrhea |
| HP:0000877 | Insulin-resistant diabetes mellitus at puberty |
| HP:0012854 | Midshaft hypospadias |
| HP:0012853 | Scrotal hypospadias |
| HP:0012852 | Hepatic bridging fibrosis |
| HP:0012851 | Colonic stenosis |
| HP:0012850 | Small intestinal dysmotility |
| HP:0009200 | Pseudoepiphysis of the proximal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/PATO_0001590 | overlap with |
| HP:0009201 | Stippling of the epiphysis of the proximal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/PATO_0001592 | increased curvature |
| HP:0012859 | Esophageal leukoplakia |
| HP:0009204 | Bracket epiphysis of the middle phalanx of the 5th finger |
| HP:0012858 | Decreased scrotal rugation |
| HP:0009205 | Cone-shaped epiphysis of the middle phalanx of the 5th finger |
| HP:0012857 | Increased scrotal rugation |
| HP:0009202 | Fragmentation of the epiphysis of the proximal phalanx of the 5th finger |
| HP:0009153 | Abnormality of the epiphysis of the proximal phalanx of the 5th finger |
| HP:0012856 | Abnormal scrotal rugation |
| HP:0009203 | Absent epiphysis of the middle phalanx of the 5th finger |
| HP:0012855 | Scrotal hyperpigmentation |
| HP:0009208 | Irregular epiphysis of the middle phalanx of the 5th finger |
| HP:0000875 | Episodic hypertension |
| HP:0009209 | Ivory epiphysis of the middle phalanx of the 5th finger |
| HP:0009206 | Enlarged epiphysis of the middle phalanx of the 5th finger |
| HP:0000872 | Hashimoto thyroiditis |
| HP:0100646 | Thyroiditis |
| HP:0009207 | Fragmentation of the epiphysis of the middle phalanx of the 5th finger |
| HP:0000870 | Increased circulating prolactin concentration |
| HP:0000871 | Panhypopituitarism |
| HP:0000888 | Horizontal ribs |
| http://purl.obolibrary.org/obo/PATO_0001576 | increased pressure |
| http://purl.obolibrary.org/obo/PATO_0001575 | decreased pressure |
| HP:0012861 | Ovotestis |
| http://purl.obolibrary.org/obo/PATO_0001571 | dilated |
| HP:0012860 | Testicular fibrosis |
| HP:0009211 | Small epiphysis of the middle phalanx of the 5th finger |
| HP:0009212 | Stippling of the epiphysis of the middle phalanx of the 5th finger |
| HP:0009210 | Pseudoepiphysis of the middle phalanx of the 5th finger |
| HP:0009215 | Bracket epiphysis of the middle phalanx of the 4th finger |
| HP:0012869 | Acephalic spermatozoa |
| HP:0009216 | Cone-shaped epiphysis of the middle phalanx of the 4th finger |
| HP:0009213 | Triangular epiphysis of the middle phalanx of the 5th finger |
| HP:0012867 | Sperm mid-piece anomaly |
| HP:0012866 | Sperm neck anomaly |
| HP:0009214 | Absent epiphysis of the middle phalanx of the 4th finger |
| HP:0009219 | Irregular epiphysis of the middle phalanx of the 4th finger |
| HP:0000885 | Broad ribs |
| HP:0000886 | Deformed rib cage |
| HP:0009217 | Enlarged epiphysis of the middle phalanx of the 4th finger |
| HP:0000883 | Thin ribs |
| HP:0009218 | Fragmentation of the epiphysis of the middle phalanx of the 4th finger |
| HP:0000884 | Prominent sternum |
| HP:0000768 | Pectus carinatum |
| HP:0010213 | Contracture of the tarsometatarsal joint of the hallux |
| HP:0010214 | Contracture of the interphalangeal joint of the hallux |
| HP:0012876 | Premature ejaculation |
| HP:0012873 | Absent vas deferens |
| HP:0012871 | Varicocele |
| HP:0009230 | Osteolytic defects of the proximal phalanx of the 5th finger |
| HP:0012870 | Vanishing testis |
| HP:0009222 | Small epiphysis of the middle phalanx of the 4th finger |
| HP:0009223 | Stippling of the epiphysis of the middle phalanx of the 4th finger |
| HP:0009220 | Ivory epiphysis of the middle phalanx of the 4th finger |
| HP:0009221 | Pseudoepiphysis of the middle phalanx of the 4th finger |
| HP:0009226 | Short proximal phalanx of the 5th finger |
| HP:0009227 | Broad proximal phalanx of the 5th finger |
| HP:0012879 | Anejaculation |
| HP:0009224 | Triangular epiphysis of the middle phalanx of the 4th finger |
| HP:0012878 | Retarded ejaculation |
| HP:0009225 | Aplasia of the proximal phalanx of the 5th finger |
| HP:0009192 | Aplasia/Hypoplasia of the proximal phalanx of the 5th finger |
| HP:0012877 | Retrograde ejaculation |
| HP:0012875 | Abnormal ejaculation |
| HP:0000896 | Rib exostoses |
| HP:0010215 | Contractures of the metatarsophalangeal joint of the hallux |
| HP:0010212 | Flexion contracture of the hallux |
| HP:0000897 | Rachitic rosary |
| HP:0009228 | Bullet-shaped proximal phalanx of the 5th finger |
| HP:0009229 | Curved proximal phalanx of the 5th finger |
| HP:0000895 | Lateral clavicle hook |
| HP:0000892 | Bifid ribs |
| HP:0010219 | Structural foot deformity |
| HP:0000893 | Bulging of the costochondral junction |
| HP:0000890 | Long clavicles |
| HP:0000891 | Cervical ribs |
| HP:0010223 | Pseudoepiphysis of the 3rd metacarpal |
| HP:0010222 | Abnormality of the epiphysis of the 3rd metacarpal |
| HP:0010225 | Pseudoepiphysis of the 4th metacarpal |
| HP:0010224 | Abnormality of the epiphysis of the 4th metacarpal |
| HP:0012887 | Ovarian serous cystadenoma |
| HP:0012886 | Hemorrhagic ovarian cyst |
| http://purl.obolibrary.org/obo/PATO_0001597 | everted |
| HP:0012885 | Fallopian tube duplication |
| HP:0012884 | Fallopian tube torsion |
| HP:0009240 | Broad distal phalanx of the 5th finger |
| HP:0012883 | Fallopian tube cyst |
| HP:0012882 | Hyperplastic labia majora |
| http://purl.obolibrary.org/obo/PATO_0001593 | decreased curvature |
| HP:0009241 | Bullet-shaped distal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/PATO_0001596 | increased depth |
| http://purl.obolibrary.org/obo/PATO_0001595 | depth |
| HP:0009234 | Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal |
| HP:0009231 | Patchy sclerosis of the proximal phalanx of the 5th finger |
| HP:0100911 | Sclerosis of the proximal phalanx of the 5th finger |
| HP:0009232 | Symphalangism affecting the proximal phalanx of the 5th finger |
| HP:0012889 | Cervical endometriosis |
| HP:0009236 | Rhomboid or triangular shaped 5th finger proximal phalanx |
| HP:0009233 | Triangular shaped proximal phalanx of the 5th finger |
| HP:0010227 | Pseudoepiphysis of the 5th metacarpal |
| HP:0010226 | Abnormality of the epiphysis of the 5th metacarpal |
| HP:0000839 | Pituitary dwarfism |
| http://purl.obolibrary.org/obo/UBERON_0010571 | manual digit 2 metacarpus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010570 | manual digit 1 metacarpus cartilage element |
| HP:0000832 | Primary hypothyroidism |
| HP:0012810 | Wide nasal base |
| HP:0012808 | Abnormal nasal base |
| HP:0012818 | Biventricular noncompaction cardiomyopathy |
| http://purl.obolibrary.org/obo/UBERON_0009581 | midbrain mantle layer |
| HP:0012816 | Right ventricular noncompaction cardiomyopathy |
| HP:0012815 | Hypoplastic female external genitalia |
| http://purl.obolibrary.org/obo/UBERON_0009583 | spinal cord mantle layer |
| HP:0012814 | Bilateral breast hypoplasia |
| HP:0012813 | Unilateral breast hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0009580 | diencephalon mantle layer |
| HP:0012811 | Wide nasal ridge |
| http://purl.obolibrary.org/obo/UBERON_0010575 | manual digit 1 phalanx pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010574 | manual digit 5 metacarpus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010573 | manual digit 4 metacarpus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010572 | manual digit 3 metacarpus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010699 | manual digit metacarpus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010579 | manual digit 5 phalanx pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010578 | manual digit 4 phalanx pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010577 | manual digit 3 phalanx pre-cartilage condensation |
| HP:0012819 | Myocarditis |
| http://purl.obolibrary.org/obo/UBERON_0010576 | manual digit 2 phalanx pre-cartilage condensation |
| HP:0000848 | Increased circulating renin level |
| HP:0000845 | Growth hormone excess |
| http://purl.obolibrary.org/obo/UBERON_0010582 | pedal digit 3 phalanx pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010581 | pedal digit 2 phalanx pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010580 | pedal digit 1 phalanx pre-cartilage condensation |
| HP:0012821 | Unilateral vocal cord paresis |
| HP:0012820 | Bilateral vocal cord paralysis |
| HP:0012829 | Profound |
| HP:0012828 | Severe |
| HP:0012827 | Borderline |
| HP:0012826 | Moderate |
| HP:0012825 | Mild |
| HP:0012824 | Severity |
| HP:0012822 | Bilateral vocal cord paresis |
| HP:0000841 | Hyperactive renin-angiotensin system |
| http://purl.obolibrary.org/obo/UBERON_0010586 | manual digit phalanx pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010584 | pedal digit 5 phalanx pre-cartilage condensation |
| HP:0000840 | Adrenogenital syndrome |
| http://purl.obolibrary.org/obo/UBERON_0010583 | pedal digit 4 phalanx pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010585 | pedal digit phalanx pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010700 | phalanx pre-cartilage condensation |
| HP:0000858 | Irregular menstruation |
| HP:0012832 | Bilateral |
| HP:0012839 | Distal |
| HP:0012838 | Localized |
| HP:0012837 | Generalized |
| HP:0012835 | Left |
| HP:0012834 | Right |
| HP:0012833 | Unilateral |
| HP:0012831 | Laterality |
| HP:0000852 | Pseudohypoparathyroidism |
| HP:0000851 | Congenital hypothyroidism |
| HP:0000869 | Secondary amenorrhea |
| HP:0000141 | Amenorrhea |
| HP:0000867 | Secondary hyperparathyroidism |
| http://purl.obolibrary.org/obo/GO_1905951 | mitochondrion DNA recombination |
| HP:0000866 | Euthyroid multinodular goiter |
| HP:0012840 | Proximal |
| HP:0012849 | Small intestinal bleeding |
| HP:0002584 | Intestinal bleeding |
| HP:0012848 | Small intestinal stenosis |
| HP:0012847 | Epilepsia partialis continua |
| HP:0012846 | Multiple trichilemmomata |
| HP:0012845 | Single trichilemmoma |
| HP:0012844 | Trichilemmoma |
| HP:0000863 | Central diabetes insipidus |
| HP:0000860 | Parathyroid hypoplasia |
| http://purl.obolibrary.org/obo/PATO_0001507 | disrupted |
| http://purl.obolibrary.org/obo/UBERON_0009549 | hepatic sinusoid of right of lobe of liver |
| http://purl.obolibrary.org/obo/PATO_0001505 | separated from |
| HP:0009291 | Aplasia of the distal phalanx of the 4th finger |
| HP:0009292 | Broad distal phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/CHEBI_17485 | homocystine |
| http://purl.obolibrary.org/obo/PATO_0001501 | immature |
| HP:0009290 | Short distal phalanx of the 4th finger |
| HP:0009295 | Short middle phalanx of the 4th finger |
| HP:0009296 | Bullet-shaped middle phalanx of the 4th finger |
| HP:0009293 | Broad middle phalanx of the 4th finger |
| HP:0009294 | Absent middle phalanx of 4th finger |
| HP:0009288 | Curved proximal phalanx of the 4th finger |
| HP:0009289 | Aplasia/Hypoplasia of the distal phalanx of the 4th finger |
| HP:0009286 | Curved distal phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010537 | mesonephric nephron progenitor |
| http://purl.obolibrary.org/obo/PR_Q60994 | adiponectin (mouse) |
| HP:0009287 | Curved middle phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010536 | nephron progenitor |
| http://purl.obolibrary.org/obo/UBERON_0010531 | metanephros induced blastemal cells |
| http://purl.obolibrary.org/obo/UBERON_0009548 | hepatic sinusoid of left of lobe of liver |
| http://purl.obolibrary.org/obo/UBERON_0010535 | primitive metanephric nephron |
| http://purl.obolibrary.org/obo/UBERON_0005106 | metanephric tubule |
| http://purl.obolibrary.org/obo/UBERON_0005108 | metanephric epithelium |
| http://purl.obolibrary.org/obo/UBERON_0010534 | primitive mesonephric nephron |
| http://purl.obolibrary.org/obo/UBERON_0010533 | metanephros cortex |
| http://purl.obolibrary.org/obo/UBERON_0010532 | primitive nephron |
| HP:0010284 | Intra-oral hyperpigmentation |
| HP:0010285 | Oral synechia |
| HP:0010287 | Abnormality of the submandibular glands |
| HP:0010288 | Abnormality of the sublingual glands |
| HP:0010281 | Cleft lower lip |
| HP:0010282 | Thin lower lip vermilion |
| HP:0000233 | Thin vermilion border |
| HP:0009299 | Aplasia/Hypoplasia of the middle phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010549 | pedal digit 3 metatarsal pre-cartilage condensation |
| HP:0009297 | Osteolytic defects of the middle phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010548 | pedal digit 2 metatarsal pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0009550 | endoderm of foregut-midgut junction |
| http://purl.obolibrary.org/obo/UBERON_0010547 | pedal digit 1 metatarsal pre-cartilage condensation |
| HP:0009298 | Aplasia of the proximal phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010541 | tarsus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010540 | tarsus pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010695 | mesenchyme of tarsal region |
| http://purl.obolibrary.org/obo/UBERON_0009559 | metacarpal/tarsal-phalangeal joint |
| http://purl.obolibrary.org/obo/CL_0000295 | somatotropin secreting cell |
| http://purl.obolibrary.org/obo/UBERON_0009553 | distal segment of pedal digit |
| http://purl.obolibrary.org/obo/UBERON_0009552 | distal segment of manual digit |
| http://purl.obolibrary.org/obo/UBERON_0009551 | distal segment of digit |
| http://purl.obolibrary.org/obo/UBERON_0010545 | metatarsus skeleton |
| http://purl.obolibrary.org/obo/UBERON_0010544 | metacarpus skeleton |
| http://purl.obolibrary.org/obo/UBERON_0010546 | metapodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_0010543 | acropodial skeleton |
| HP:0010295 | Aplasia/Hypoplasia of the tongue |
| HP:0010296 | Ankyloglossia |
| HP:0000190 | Abnormal oral frenulum morphology |
| HP:0010297 | Bifid tongue |
| HP:0010298 | Smooth tongue |
| HP:0010290 | Short hard palate |
| HP:0010291 | Prominent palatine ridges |
| HP:0010292 | Absent uvula |
| HP:0010294 | Palate fistula |
| http://purl.obolibrary.org/obo/UBERON_0010559 | pedal digit 3 metatarsal cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010558 | pedal digit 2 metatarsal cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0009568 | trunk region of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0010551 | pedal digit 5 metatarsal pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010550 | pedal digit 4 metatarsal pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010687 | pedal digit metatarsal pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010557 | pedal digit 1 metatarsal cartilage element |
| http://purl.obolibrary.org/obo/PR_P01731 | T-cell surface glycoprotein CD8 alpha chain (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0010560 | pedal digit 4 metatarsal cartilage element |
| http://purl.obolibrary.org/obo/PATO_0001512 | punctate |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5389 | IDS (human) |
| http://purl.obolibrary.org/obo/PATO_0001511 | non-functional |
| http://purl.obolibrary.org/obo/UBERON_0009570 | spinal cord sulcus limitans |
| http://purl.obolibrary.org/obo/UBERON_0009572 | lumen of central canal of spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0010569 | manual digit 5 metacarpus pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010564 | manual digit 1 mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0005257 | manual digit mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0009578 | myelencephalon sulcus limitans |
| http://purl.obolibrary.org/obo/UBERON_0010562 | pedal digit 1 mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0005255 | pedal digit mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010702 | digit mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010561 | pedal digit 5 metatarsal cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010697 | pedal digit metatarsal cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010568 | manual digit 4 metacarpus pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010567 | manual digit 3 metacarpus pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0009577 | metencephalon sulcus limitans |
| http://purl.obolibrary.org/obo/UBERON_0010566 | manual digit 2 metacarpus pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0009576 | medulla oblongata sulcus limitans |
| http://purl.obolibrary.org/obo/UBERON_0005478 | sulcus limitans of neural tube |
| http://purl.obolibrary.org/obo/UBERON_0010565 | manual digit 1 metacarpus pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010698 | manual digit metacarpus pre-cartilage condensation |
| HP:0012890 | Posteriorly placed anus |
| http://purl.obolibrary.org/obo/UBERON_0009506 | mesenchyme of middle ear |
| http://purl.obolibrary.org/obo/UBERON_0009505 | mesenchyme of trachea |
| http://purl.obolibrary.org/obo/PATO_0001549 | increased sensitivity toward |
| http://purl.obolibrary.org/obo/PATO_0001548 | quality of a liquid |
| HP:0012898 | Abnormal lower-limb motor evoked potentials |
| HP:0012897 | Abnormal upper-limb motor evoked potentials |
| http://purl.obolibrary.org/obo/PATO_0001545 | inflexible |
| HP:0012896 | Abnormal motor evoked potentials |
| HP:0012895 | Scapular muscle hypertrophy |
| HP:0009251 | Bracket epiphysis of the distal phalanx of the 4th finger |
| HP:0012894 | Paraspinal muscle hypertrophy |
| HP:0009252 | Cone-shaped epiphysis of the distal phalanx of the 4th finger |
| HP:0012893 | Neck muscle hypertrophy |
| HP:0012892 | Facial muscle hypertrophy |
| HP:0009250 | Absent epiphysis of the distal phalanx of the 4th finger |
| HP:0012891 | High posterior hairline |
| HP:0009244 | Distal/middle symphalangism of 5th finger |
| HP:0009178 | Symphalangism of middle phalanx of 5th finger |
| HP:0009242 | Osteolytic defects of the distal phalanx of the 5th finger |
| HP:0009243 | Patchy sclerosis of the distal phalanx of the 5th finger |
| HP:0100903 | Sclerosis of the distal phalanx of the 5th finger |
| HP:0009246 | Aplasia of the distal phalanx of the 5th finger |
| HP:0009238 | Aplasia of the 5th finger |
| HP:0012899 | Handgrip myotonia |
| http://purl.obolibrary.org/obo/UBERON_0009503 | mesenchyme of hindgut |
| http://purl.obolibrary.org/obo/UBERON_0009500 | periotic mesenchyme |
| HP:0009262 | Bracket epiphysis of the proximal phalanx of the 4th finger |
| HP:0009263 | Cone-shaped epiphysis of the proximal phalanx of the 4th finger |
| HP:0009260 | Triangular epiphysis of the distal phalanx of the 4th finger |
| HP:0009261 | Absent epiphysis of the proximal phalanx of the 4th finger |
| HP:0009255 | Irregular epiphysis of the distal phalanx of the 4th finger |
| HP:0009256 | Ivory epiphysis of the distal phalanx of the 4th finger |
| HP:0009253 | Enlarged epiphysis of the distal phalanx of the 4th finger |
| HP:0009254 | Fragmentation of the epiphysis of the distal phalanx of the 4th finger |
| HP:0009259 | Stippling of the epiphysis of the distal phalanx of the 4th finger |
| HP:0009257 | Pseudoepiphysis of the distal phalanx of the 4th finger |
| HP:0009258 | Small epiphysis of the distal phalanx of the 4th finger |
| HP:0009249 | Abnormality of the epiphysis of the distal phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/CHEBI_78444 | EC 3.1.1.1 (carboxylesterase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76773 | EC 3.1.1.* (carboxylic ester hydrolase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76760 | EC 3.1.* (ester hydrolase) inhibitor |
| HP:0009270 | Stippling of the epiphysis of the proximal phalanx of the 4th finger |
| HP:0009247 | Abnormality of the epiphysis of the middle phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/PATO_0001561 | having extra processual parts |
| HP:0009271 | Triangular epiphysis of the proximal phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/PATO_0001563 | increased mass |
| http://purl.obolibrary.org/obo/PATO_0001562 | decreased mass |
| HP:0009266 | Irregular epiphysis of the proximal phalanx of the 4th finger |
| HP:0009267 | Ivory epiphysis of the proximal phalanx of the 4th finger |
| HP:0009264 | Enlarged epiphysis of the proximal phalanx of the 4th finger |
| HP:0009265 | Fragmentation of the epiphysis of the proximal phalanx of the 4th finger |
| HP:0009268 | Pseudoepiphysis of the proximal phalanx of the 4th finger |
| HP:0009269 | Small epiphysis of the proximal phalanx of the 4th finger |
| HP:0009248 | Abnormality of the epiphysis of the proximal phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0009522 | lateral lingual swelling epithelium |
| http://purl.obolibrary.org/obo/GO_1903380 | positive regulation of mitotic chromosome condensation |
| http://purl.obolibrary.org/obo/GO_0062033 | positive regulation of mitotic sister chromatid segregation |
| http://purl.obolibrary.org/obo/GO_1905821 | positive regulation of chromosome condensation |
| http://purl.obolibrary.org/obo/CHEBI_78433 | refrigerant |
| http://purl.obolibrary.org/obo/PATO_0001558 | lacking processual parts |
| http://purl.obolibrary.org/obo/PATO_0001564 | extra or missing processual parts |
| http://purl.obolibrary.org/obo/UBERON_0009539 | mesenchyme of submandibular gland primordium |
| http://purl.obolibrary.org/obo/UBERON_0009538 | mesenchyme of sublingual gland primordium |
| http://purl.obolibrary.org/obo/GO_1903379 | regulation of mitotic chromosome condensation |
| HP:0009281 | Aplasia of the 4th finger |
| http://purl.obolibrary.org/obo/CHEBI_42485 | formyl group |
| http://purl.obolibrary.org/obo/PATO_0001550 | decreased sensitivity toward |
| HP:0009285 | Curved phalanges of the 4th finger |
| http://purl.obolibrary.org/obo/PATO_0001552 | decreased sensitivity of a process |
| http://purl.obolibrary.org/obo/PATO_0001551 | increased sensitivity of a process |
| http://purl.obolibrary.org/obo/PATO_0001457 | sensitivity of a process |
| HP:0009277 | Contracture of the metacarpophalangeal joint of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010528 | pneumatic cavity of bone |
| HP:0009278 | Ulnar deviation of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010527 | cavity of bone organ |
| HP:0009275 | Contracture of the distal interphalangeal joint of the 4th finger |
| HP:0009276 | Contracture of the proximal interphalangeal joint of the 4th finger |
| HP:0009274 | Joint contracture of the 4th finger |
| HP:0009279 | Radial deviation of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0009537 | vascular element of right lung |
| http://purl.obolibrary.org/obo/UBERON_0009536 | vascular element of left lung |
| http://purl.obolibrary.org/obo/CHEBI_17418 | valeric acid |
| http://purl.obolibrary.org/obo/CL_0000113 | mononuclear phagocyte |
| http://purl.obolibrary.org/obo/CL_0000518 | phagocyte (sensu Vertebrata) |
| http://purl.obolibrary.org/obo/CL_0000111 | peripheral neuron |
| http://purl.obolibrary.org/obo/PR_O54754 | aldehyde oxidase 1 (mouse) |
| http://purl.obolibrary.org/obo/CL_0000121 | Purkinje cell |
| http://purl.obolibrary.org/obo/CL_1001611 | cerebellar neuron |
| http://purl.obolibrary.org/obo/CL_0000117 | CNS neuron (sensu Vertebrata) |
| http://purl.obolibrary.org/obo/PATO_0001706 | behavioural inactive |
| http://purl.obolibrary.org/obo/PATO_0001701 | mature |
| http://purl.obolibrary.org/obo/CL_0000133 | neurectodermal cell |
| http://purl.obolibrary.org/obo/CL_0000221 | ectodermal cell |
| http://purl.obolibrary.org/obo/CL_0000129 | microglial cell |
| http://purl.obolibrary.org/obo/CL_0000878 | central nervous system macrophage |
| http://purl.obolibrary.org/obo/CL_0000864 | tissue-resident macrophage |
| http://purl.obolibrary.org/obo/CL_0000235 | macrophage |
| http://purl.obolibrary.org/obo/CL_0000234 | phagocyte |
| http://purl.obolibrary.org/obo/CL_0000127 | astrocyte |
| http://purl.obolibrary.org/obo/CHEBI_17453 | methylmalonate(2-) |
| http://purl.obolibrary.org/obo/PATO_0001716 | non-fragile |
| http://purl.obolibrary.org/obo/CL_0000149 | visual pigment cell |
| http://purl.obolibrary.org/obo/CL_0000147 | pigment cell |
| http://purl.obolibrary.org/obo/CL_0000145 | professional antigen presenting cell |
| http://purl.obolibrary.org/obo/CHEBI_30413 | heme |
| http://purl.obolibrary.org/obo/CHEBI_25216 | metalloporphyrin |
| http://purl.obolibrary.org/obo/CHEBI_30411 | cobalamin |
| http://purl.obolibrary.org/obo/GO_1903511 | orotic acid metabolic process |
| http://purl.obolibrary.org/obo/PR_P01590 | interleukin-2 receptor subunit alpha (mouse) |
| http://purl.obolibrary.org/obo/PR_P13595 | neural cell adhesion molecule 1 (mouse) |
| HP:0000999 | Pyoderma |
| HP:0010310 | Chylothorax |
| HP:0010312 | Asymmetry of the breasts |
| HP:0000997 | Axillary freckling |
| HP:0010313 | Breast hypertrophy |
| HP:0009321 | Absent epiphysis of the middle phalanx of the 3rd finger |
| HP:0009322 | Bracket epiphysis of the middle phalanx of the 3rd finger |
| HP:0009325 | Fragmentation of the epiphysis of the middle phalanx of the 3rd finger |
| HP:0009326 | Irregular epiphysis of the middle phalanx of the 3rd finger |
| HP:0009323 | Cone-shaped epiphysis of the middle phalanx of the 3rd finger |
| HP:0009324 | Enlarged epiphysis of the middle phalanx of the 3rd finger |
| HP:0009329 | Small epiphysis of the middle phalanx of the 3rd finger |
| HP:0010314 | Premature thelarche |
| HP:0000993 | Molluscoid pseudotumors |
| HP:0009327 | Ivory epiphysis of the middle phalanx of the 3rd finger |
| HP:0010316 | Ebstein anomaly of the tricuspid valve |
| HP:0009328 | Pseudoepiphysis of the middle phalanx of the 3rd finger |
| HP:0010317 | Scapular aplasia |
| http://purl.obolibrary.org/obo/PATO_0001697 | decreased photosensitivity |
| http://purl.obolibrary.org/obo/PATO_0001698 | increased photosensitivity |
| HP:0009340 | Irregular epiphysis of the distal phalanx of the 3rd finger |
| HP:0009330 | Stippling of the epiphysis of the middle phalanx of the 3rd finger |
| HP:0009331 | Triangular epiphysis of the middle phalanx of the 3rd finger |
| HP:0009336 | Bracket epiphysis of the distal phalanx of the 3rd finger |
| HP:0009337 | Cone-shaped epiphysis of the distal phalanx of the 3rd finger |
| HP:0009334 | Abnormality of the epiphysis of the middle phalanx of the 3rd finger |
| HP:0009335 | Absent epiphysis of the distal phalanx of the 3rd finger |
| HP:0009338 | Enlarged epiphysis of the distal phalanx of the 3rd finger |
| HP:0010328 | Polydactyly affecting the 2nd toe |
| HP:0009339 | Fragmentation of the epiphysis of the distal phalanx of the 3rd finger |
| HP:0010334 | Polydactyly affecting the 3rd toe |
| HP:0009350 | Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009351 | Irregular epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009343 | Small epiphysis of the distal phalanx of the 3rd finger |
| HP:0009344 | Stippling of the epiphysis of the distal phalanx of the 3rd finger |
| HP:0009341 | Ivory epiphysis of the distal phalanx of the 3rd finger |
| HP:0009342 | Pseudoepiphysis of the distal phalanx of the 3rd finger |
| HP:0009347 | Bracket epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009348 | Cone-shaped epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009345 | Triangular epiphysis of the distal phalanx of the 3rd finger |
| HP:0009332 | Abnormality of the epiphysis of the distal phalanx of the 3rd finger |
| HP:0009346 | Absent epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009349 | Enlarged epiphysis of the proximal phalanx of the 3rd finger |
| HP:0010340 | Polydactyly affecting the 4th toe |
| HP:0010112 | Mesoaxial foot polydactyly |
| HP:0009354 | Small epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009355 | Stippling of the epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009352 | Ivory epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009353 | Pseudoepiphysis of the proximal phalanx of the 3rd finger |
| HP:0009356 | Triangular epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009333 | Abnormality of the epiphysis of the proximal phalanx of the 3rd finger |
| HP:0000958 | Dry skin |
| HP:0000956 | Acanthosis nigricans |
| HP:0000967 | Petechiae |
| HP:0000965 | Cutis marmorata |
| http://purl.obolibrary.org/obo/UBERON_0009472 | axilla |
| http://purl.obolibrary.org/obo/UBERON_0009471 | dorsum of tongue |
| http://purl.obolibrary.org/obo/UBERON_0009479 | ectoderm of buccopharyngeal membrane |
| HP:0000963 | Thin skin |
| HP:0000960 | Sacral dimple |
| http://purl.obolibrary.org/obo/UBERON_0009477 | associated mesenchyme of otic placode |
| HP:0000978 | Bruising susceptibility |
| HP:0000976 | Eczematoid dermatitis |
| http://purl.obolibrary.org/obo/UBERON_0009483 | mesentery of foregut-midgut junction |
| http://purl.obolibrary.org/obo/UBERON_0009482 | associated mesenchyme of foregut-midgut junction |
| HP:0009303 | Osteolytic defects of the distal phalanx of the 4th finger |
| HP:0009304 | Patchy sclerosis of the distal phalanx of the 4th finger |
| HP:0100902 | Sclerosis of the distal phalanx of the 4th finger |
| HP:0009301 | Short proximal phalanx of the 4th finger |
| HP:0009280 | Short 4th finger |
| HP:0009272 | Aplasia/Hypoplasia of the 4th finger |
| HP:0009300 | Aplasia/Hypoplasia of the proximal phalanx of the 4th finger |
| HP:0009302 | Bullet-shaped distal phalanx of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0009480 | endoderm of buccopharyngeal membrane |
| HP:0009307 | Patchy sclerosis of the middle phalanx of the 4th finger |
| HP:0100906 | Sclerosis of the middle phalanx of the 4th finger |
| HP:0009305 | Distal/middle symphalangism of 4th finger |
| HP:0009306 | Triangular shaped distal phalanx of the 4th finger |
| HP:0000970 | Anhidrosis |
| HP:0009309 | Triangular shaped middle phalanx of the 4th finger |
| HP:0010300 | Abnormally low-pitched voice |
| HP:0009310 | Broad proximal phalanx of the 4th finger |
| HP:0009311 | Bullet-shaped proximal phalanx of the 4th finger |
| HP:0009315 | Triangular shaped proximal phalanx of the 4th finger |
| HP:0009312 | Osteolytic defects of the proximal phalanx of the 4th finger |
| HP:0009313 | Patchy sclerosis of the proximal phalanx of the 4th finger |
| HP:0100910 | Sclerosis of the proximal phalanx of the 4th finger |
| HP:0010304 | Spinal meningeal diverticulum |
| HP:0010305 | Absence of the sacrum |
| HP:0010306 | Short thorax |
| HP:0010308 | Asternia |
| HP:0010309 | Bifid sternum |
| http://purl.obolibrary.org/obo/PATO_0001628 | insufficient |
| http://purl.obolibrary.org/obo/PATO_0001627 | sufficient |
| HP:0010396 | Broad proximal phalanx of the 2nd toe |
| HP:0010397 | Bullet-shaped proximal phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/PATO_0001624 | decreased functionality |
| HP:0010398 | Curved proximal phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/PATO_0001623 | atrophied |
| HP:0010399 | Osteolytic defects of the proximal phalanx of the 2nd toe |
| HP:0010207 | Osteolytic defect of the proximal toe phalanx |
| http://purl.obolibrary.org/obo/PATO_0001626 | sufficiency |
| http://purl.obolibrary.org/obo/CL_0000178 | Leydig cell |
| http://purl.obolibrary.org/obo/PATO_0001625 | increased functionality |
| http://purl.obolibrary.org/obo/PATO_0001559 | having extra function |
| http://purl.obolibrary.org/obo/PATO_0001510 | functional |
| http://purl.obolibrary.org/obo/PATO_0001509 | functionality |
| http://purl.obolibrary.org/obo/CL_0000177 | testosterone secreting cell |
| http://purl.obolibrary.org/obo/CHEBI_17364 | D-aspartic acid |
| http://purl.obolibrary.org/obo/CHEBI_29337 | azanide |
| http://purl.obolibrary.org/obo/CHEBI_17368 | hypoxanthine |
| http://purl.obolibrary.org/obo/CL_0000182 | hepatocyte |
| http://purl.obolibrary.org/obo/CL_0000181 | metabolising cell |
| http://purl.obolibrary.org/obo/UBERON_0010412 | epididymal fat pad |
| http://purl.obolibrary.org/obo/UBERON_0010411 | retroperitoneal fat pad |
| http://purl.obolibrary.org/obo/PATO_0001619 | decreased tonicity |
| http://purl.obolibrary.org/obo/PATO_0001618 | increased tonicity |
| http://purl.obolibrary.org/obo/PATO_0001439 | tonicity |
| http://purl.obolibrary.org/obo/PATO_0001579 | contractility |
| http://purl.obolibrary.org/obo/CL_0000169 | type B pancreatic cell |
| http://purl.obolibrary.org/obo/CL_0000164 | enteroendocrine cell |
| http://purl.obolibrary.org/obo/CL_0000150 | glandular epithelial cell |
| http://purl.obolibrary.org/obo/CL_0000168 | insulin secreting cell |
| http://purl.obolibrary.org/obo/CL_0000154 | protein secreting cell |
| http://purl.obolibrary.org/obo/CL_0000167 | peptide hormone secreting cell |
| http://purl.obolibrary.org/obo/CHEBI_17376 | cystine |
| http://purl.obolibrary.org/obo/UBERON_0010427 | ciliary processes |
| http://purl.obolibrary.org/obo/UBERON_0010421 | spleen B cell corona |
| http://purl.obolibrary.org/obo/UBERON_0010420 | lymph node follicular corona |
| http://purl.obolibrary.org/obo/UBERON_0010755 | secondary follicle corona |
| http://purl.obolibrary.org/obo/CL_0000174 | steroid hormone secreting cell |
| http://purl.obolibrary.org/obo/CHEBI_32970 | 2-aminoethanesulfonate |
| http://purl.obolibrary.org/obo/CHEBI_62081 | 1,1-diunsubstituted alkanesulfonate |
| http://purl.obolibrary.org/obo/UBERON_0010424 | distal segment of rib |
| http://purl.obolibrary.org/obo/UBERON_0010423 | primary lymphoid nodule of tonsil |
| http://purl.obolibrary.org/obo/PATO_0001649 | curved lateral |
| http://purl.obolibrary.org/obo/PATO_0001646 | protruding out of |
| http://purl.obolibrary.org/obo/CHEBI_17347 | testosterone |
| http://purl.obolibrary.org/obo/CHEBI_91316 | (S)-methylsuccinic acid |
| http://purl.obolibrary.org/obo/CHEBI_91317 | (R)-methylsuccinic acid |
| http://purl.obolibrary.org/obo/CHEBI_91315 | 2-methylbutanedioic acid |
| http://purl.obolibrary.org/obo/CHEBI_29340 | hydridonitrate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_17359 | sulfite |
| http://purl.obolibrary.org/obo/PATO_0001669 | increased susceptibility toward |
| HP:0009372 | Type A2 brachydactyly |
| HP:0009373 | Type C brachydactyly |
| HP:0009371 | Type A1 brachydactyly |
| http://purl.obolibrary.org/obo/CHEBI_30363 | isobutane |
| http://purl.obolibrary.org/obo/PATO_0001653 | aligned with |
| http://purl.obolibrary.org/obo/PATO_0001654 | misaligned with |
| http://purl.obolibrary.org/obo/PATO_0001652 | alignment |
| HP:0009383 | Bracket epiphyses of the 5th finger |
| HP:0009377 | Patchy sclerosis of 5th finger phalanx |
| HP:0009374 | Broad phalanges of the 5th finger |
| HP:0009375 | Bullet-shaped phalanges of the 5th finger |
| http://purl.obolibrary.org/obo/CHEBI_30356 | isobutyl group |
| HP:0009379 | Rhomboid or triangular shaped 5th finger distal phalanx |
| HP:0009245 | Triangular shaped distal phalanx of the 5th finger |
| http://purl.obolibrary.org/obo/CHEBI_30353 | isopropyl group |
| HP:0009390 | Small epiphyses of the 5th finger |
| HP:0009391 | Stippling of the epiphyses of the 5th finger |
| http://purl.obolibrary.org/obo/CARO_0010000 | multicellular anatomical structure |
| HP:0009394 | Bracket epiphyses of the 4th finger |
| HP:0009392 | Triangular epiphyses of the 5th finger |
| http://purl.obolibrary.org/obo/CHEBI_17381 | porphobilinogen |
| HP:0009393 | Absent epiphyses of the 4th finger |
| HP:0009387 | Irregular epiphyses of the 5th finger |
| HP:0009385 | Enlarged epiphyses of the 5th finger |
| HP:0009386 | Fragmentation of the epiphyses of the 5th finger |
| HP:0009389 | Pseudoepiphyses of the 5th finger |
| http://purl.obolibrary.org/obo/PATO_0001670 | decreased susceptibility toward |
| http://purl.obolibrary.org/obo/PATO_0001152 | susceptible toward |
| HP:0009398 | Irregular epiphyses of the 4th finger |
| HP:0009399 | Ivory epiphyses of the 4th finger |
| HP:0009396 | Enlarged epiphyses of the 4th finger |
| HP:0009397 | Fragmentation of the epiphyses of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010409 | ocular surface region |
| http://purl.obolibrary.org/obo/UBERON_0010408 | ocular angle artery |
| http://purl.obolibrary.org/obo/UBERON_0010402 | epidermis suprabasal layer |
| http://purl.obolibrary.org/obo/UBERON_0010400 | spleen trabecular vein |
| HP:0200148 | Abnormal liver function tests during pregnancy |
| http://purl.obolibrary.org/obo/CL_0000458 | serotonin secreting cell |
| HP:0200147 | Neuronal loss in basal ganglia |
| HP:0200141 | Small, conical teeth |
| HP:0200143 | Megaloblastic erythroid hyperplasia |
| HP:0012132 | Erythroid hyperplasia |
| HP:0012131 | Abnormal number of erythroid precursors |
| http://purl.obolibrary.org/obo/PR_Q9W735 | prominin-1-A (zebrafish) |
| HP:0200138 | Bilateral choanal atresia/stenosis |
| HP:0000452 | Choanal stenosis |
| HP:0200133 | Lumbosacral meningocele |
| HP:0200134 | Epileptic encephalopathy |
| HP:0200136 | Oral-pharyngeal dysphagia |
| http://purl.obolibrary.org/obo/PATO_0001802 | loose |
| http://purl.obolibrary.org/obo/PATO_0001801 | decreased water composition |
| http://purl.obolibrary.org/obo/PATO_0001800 | water composition |
| http://purl.obolibrary.org/obo/CHEBI_30745 | phenylacetic acid |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3012 | DPYD (human) |
| http://purl.obolibrary.org/obo/CL_0000484 | connective tissue type mast cell |
| http://purl.obolibrary.org/obo/CL_0000097 | mast cell |
| http://purl.obolibrary.org/obo/CL_0002274 | histamine secreting cell |
| http://purl.obolibrary.org/obo/CL_0000457 | biogenic amine secreting cell |
| HP:0200159 | Agenesis of primary mandibular lateral incisor |
| HP:0200158 | Agenesis of permanent mandibular lateral incisor |
| HP:0200151 | Cutaneous mastocytosis |
| HP:0200154 | Agenesis of mandibular lateral incisor |
| HP:0200150 | Increased serum bile acid concentration during pregnancy |
| HP:0012202 | Increased serum bile acid concentration |
| http://purl.obolibrary.org/obo/CHEBI_17755 | cystathionine |
| http://purl.obolibrary.org/obo/CHEBI_17754 | glycerol |
| http://purl.obolibrary.org/obo/CL_0000473 | defensive cell |
| http://purl.obolibrary.org/obo/CHEBI_17759 | cholesta-5,7-dien-3beta-ol |
| http://purl.obolibrary.org/obo/CHEBI_138131 | Delta(5),Delta(7)-sterol |
| http://purl.obolibrary.org/obo/PATO_0001826 | decreased wetness |
| http://purl.obolibrary.org/obo/PATO_0001825 | increased wetness |
| http://purl.obolibrary.org/obo/PATO_0001828 | male pseudohermaphrodite |
| http://purl.obolibrary.org/obo/PATO_0001821 | imperforate |
| http://purl.obolibrary.org/obo/PATO_0001824 | dry |
| http://purl.obolibrary.org/obo/PATO_0001823 | wet |
| http://purl.obolibrary.org/obo/PATO_0001822 | wetness |
| http://purl.obolibrary.org/obo/CHEBI_30768 | propionic acid |
| http://purl.obolibrary.org/obo/PATO_0001829 | female pseudohermaphrodite |
| http://purl.obolibrary.org/obo/PATO_0001827 | pseudohermaphrodite |
| http://purl.obolibrary.org/obo/PATO_0001817 | decreased fatigability |
| http://purl.obolibrary.org/obo/PATO_0001816 | increased fatigability |
| http://purl.obolibrary.org/obo/PATO_0001815 | fatigability |
| http://purl.obolibrary.org/obo/PATO_0001810 | wrinkled |
| http://purl.obolibrary.org/obo/CHEBI_30751 | formic acid |
| http://purl.obolibrary.org/obo/CL_0000492 | CD4-positive helper T cell |
| http://purl.obolibrary.org/obo/PATO_0001819 | atretic |
| http://purl.obolibrary.org/obo/PATO_0001818 | progressive |
| http://purl.obolibrary.org/obo/PATO_0001848 | asymmetrically curved |
| http://purl.obolibrary.org/obo/PATO_0001847 | constricted |
| http://purl.obolibrary.org/obo/PATO_0001845 | irregular rhythm |
| http://purl.obolibrary.org/obo/CL_1001319 | bladder cell |
| http://purl.obolibrary.org/obo/CHEBI_27136 | triol |
| http://purl.obolibrary.org/obo/CHEBI_29793 | hydridodioxygen(1+) |
| http://purl.obolibrary.org/obo/PATO_0001833 | decreased male fertility |
| http://purl.obolibrary.org/obo/PATO_0001832 | increased male fertility |
| http://purl.obolibrary.org/obo/PATO_0001835 | increased fertility |
| http://purl.obolibrary.org/obo/PATO_0001834 | decreased fertility |
| http://purl.obolibrary.org/obo/PATO_0001831 | increased female fertility |
| http://purl.obolibrary.org/obo/PATO_0001830 | decreased female fertility |
| http://purl.obolibrary.org/obo/CHEBI_17790 | methanol |
| http://purl.obolibrary.org/obo/CHEBI_30769 | citric acid |
| http://purl.obolibrary.org/obo/CHEBI_30776 | hexanoic acid |
| http://purl.obolibrary.org/obo/CHEBI_30772 | butyric acid |
| http://purl.obolibrary.org/obo/GO_0035176 | social behavior |
| http://purl.obolibrary.org/obo/GO_0001764 | neuron migration |
| HP:0009502 | Absent epiphysis of the distal phalanx of the 2nd finger |
| HP:0009505 | Enlarged epiphysis of the distal phalanx of the 2nd finger |
| HP:0009506 | Fragmentation of the epiphysis of the distal phalanx of the 2nd finger |
| HP:0009503 | Bracket epiphysis of the distal phalanx of the 2nd finger |
| HP:0009504 | Cone-shaped epiphysis of the distal phalanx of the 2nd finger |
| HP:0009509 | Pseudoepiphysis of the distal phalanx of the 2nd finger |
| HP:0009507 | Irregular epiphysis of the distal phalanx of the 2nd finger |
| HP:0009508 | Ivory epiphysis of the distal phalanx of the 2nd finger |
| http://purl.obolibrary.org/obo/GO_0050765 | negative regulation of phagocytosis |
| http://purl.obolibrary.org/obo/GO_0050766 | positive regulation of phagocytosis |
| http://purl.obolibrary.org/obo/GO_0050764 | regulation of phagocytosis |
| HP:0010509 | Aplasia of the tarsal bones |
| HP:0009512 | Triangular epiphysis of the distal phalanx of the 2nd finger |
| HP:0009513 | Absent epiphysis of the middle phalanx of the 2nd finger |
| HP:0009510 | Small epiphysis of the distal phalanx of the 2nd finger |
| HP:0009511 | Stippling of the epiphysis of the distal phalanx of the 2nd finger |
| HP:0009516 | Enlarged epiphysis of the middle phalanx of the 2nd finger |
| HP:0010501 | Limitation of knee mobility |
| HP:0009517 | Fragmentation of the epiphysis of the middle phalanx of the 2nd finger |
| HP:0010502 | Fibular bowing |
| HP:0009514 | Bracket epiphysis of the middle phalanx of the 2nd finger |
| HP:0010503 | Fibular duplication |
| HP:0009515 | Cone-shaped epiphysis of the middle phalanx of the 2nd finger |
| HP:0010504 | Increased length of the tibia |
| HP:0010505 | Limitation of movement at ankles |
| HP:0010506 | Abnormal plantar dermatoglyphics |
| HP:0009518 | Irregular epiphysis of the middle phalanx of the 2nd finger |
| HP:0010507 | Foot asymmetry |
| HP:0009519 | Ivory epiphysis of the middle phalanx of the 2nd finger |
| HP:0010508 | Metatarsus valgus |
| HP:0200104 | Absent fifth fingernail |
| HP:0200105 | Absent fifth toenail |
| HP:0200107 | Shortened inner dynein arms |
| http://purl.obolibrary.org/obo/CL_0000417 | endopolyploid cell |
| http://purl.obolibrary.org/obo/CL_0000412 | polyploid cell |
| HP:0200108 | Shortened outer dynein arms |
| HP:0200109 | Absent/shortened outer dynein arms |
| HP:0200106 | Absent/shortened dynein arms |
| HP:0012255 | Dynein arm defect of respiratory motile cilia |
| HP:0200127 | Atrial cardiomyopathy |
| HP:0200128 | Biventricular hypertrophy |
| HP:0200122 | Atypical or prolonged hepatitis |
| HP:0200124 | Chronic hepatitis due to cryptosporidium infection |
| HP:0200125 | Mitochondrial respiratory chain defects |
| HP:0200120 | Chronic active hepatitis |
| HP:0200123 | Chronic hepatitis |
| http://purl.obolibrary.org/obo/NCBITaxon_4896 | Schizosaccharomyces pombe |
| HP:0200116 | Distal ileal atresia |
| HP:0200117 | Recurrent upper and lower respiratory tract infections |
| HP:0200118 | Malabsorption of Vitamin B12 |
| HP:0200111 | Absent stapes head |
| HP:0200113 | Aphalangy of hands and feet |
| HP:0200119 | Acute hepatitis |
| http://purl.obolibrary.org/obo/PR_P49429 | 4-hydroxyphenylpyruvate dioxygenase (mouse) |
| HP:0010432 | Absent distal phalanx of the 2nd toe |
| HP:0010433 | Short distal phalanx of the 2nd toe |
| HP:0010434 | Aplasia of the middle phalanx of the 2nd toe |
| HP:0009450 | Broad proximal phalanx of the 3rd finger |
| HP:0010435 | Short middle phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0010376 | pancreas ventral primordium |
| HP:0010436 | Aplasia of the proximal phalanx of the 2nd toe |
| HP:0010430 | Aplasia of the phalanges of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0010375 | pancreas dorsal primordium |
| HP:0010437 | Short proximal phalanx of the 2nd toe |
| HP:0010431 | Short phalanx of the 2nd toe |
| HP:0010395 | Aplasia/hypoplasia of the proximal phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0010379 | superior tarsal muscle |
| http://purl.obolibrary.org/obo/UBERON_0010378 | mesenchyme from splanchnopleure |
| http://purl.obolibrary.org/obo/UBERON_0010380 | enteric nerve |
| http://purl.obolibrary.org/obo/GO_0060083 | smooth muscle contraction involved in micturition |
| HP:0010440 | Ectopic accesory toe-like appendage |
| HP:0010441 | Ectopic accessory finger-like appendage |
| http://purl.obolibrary.org/obo/UBERON_0010384 | lumen of laryngopharynx |
| HP:0010443 | Bifid femur |
| HP:0010444 | Pulmonary insufficiency |
| HP:0010445 | Primum atrial septal defect |
| HP:0009453 | Osteolytic defects of the proximal phalanx of the 3rd finger |
| HP:0009454 | Patchy sclerosis of the proximal phalanx of the 3rd finger |
| HP:0100909 | Sclerosis of the proximal phalanx of the 3rd finger |
| HP:0009451 | Bullet-shaped proximal phalanx of the 3rd finger |
| HP:0009452 | Curved proximal phalanx of the 3rd finger |
| HP:0009458 | Aplasia of the proximal phalanx of the 3rd finger |
| HP:0009456 | Triangular shaped proximal phalanx of the 3rd finger |
| http://purl.obolibrary.org/obo/CHEBI_64049 | food acidity regulator |
| http://purl.obolibrary.org/obo/UBERON_0010388 | proximal segment of rib |
| HP:0010446 | Tricuspid stenosis |
| HP:0009459 | Short proximal phalanx of the 3rd finger |
| HP:0009457 | Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger |
| HP:0010448 | Colonic atresia |
| http://purl.obolibrary.org/obo/GO_0060073 | micturition |
| http://purl.obolibrary.org/obo/UBERON_0010390 | lumen of urethra |
| HP:0010452 | Ectopia of the spleen |
| http://purl.obolibrary.org/obo/UBERON_0010395 | lymph node primary follicle |
| http://purl.obolibrary.org/obo/UBERON_0010748 | lymph node follicle |
| HP:0010453 | Pelvic bone asymmetry |
| HP:0010454 | Acetabular spurs |
| HP:0010455 | Steep acetabular roof |
| HP:0009471 | Contracture of the proximal interphalangeal joint of the 3rd finger |
| HP:0009470 | Contracture of the metacarpophalangeal joint of the 3rd finger |
| HP:0009464 | Ulnar deviation of the 2nd finger |
| HP:0009462 | Radial deviation of the 3rd finger |
| HP:0009463 | Ulnar deviation of the 3rd finger |
| HP:0009469 | Contracture of the distal interphalangeal joint of the 3rd finger |
| HP:0009319 | Joint contracture of the 3rd finger |
| http://purl.obolibrary.org/obo/GO_0060048 | cardiac muscle contraction |
| HP:0009467 | Radial deviation of the 2nd finger |
| http://purl.obolibrary.org/obo/GO_0060047 | heart contraction |
| http://purl.obolibrary.org/obo/GO_0003015 | heart process |
| http://purl.obolibrary.org/obo/UBERON_0010399 | spleen trabecular artery |
| http://zfin.org/action/marker/view/ZDB-GENE-980526-110 | ins (zebrafish) |
| HP:0010458 | Female pseudohermaphroditism |
| HP:0010459 | True hermaphroditism |
| HP:0010463 | Aplasia of the ovary |
| http://purl.obolibrary.org/obo/CHEBI_78631 | chroman-6-ol |
| HP:0010464 | Streak ovary |
| HP:0010465 | Precocious puberty in females |
| HP:0009482 | Proximal/middle symphalangism of 3rd finger |
| HP:0009483 | Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal |
| HP:0009455 | Symphalangism affecting the proximal phalanx of the 3rd finger |
| HP:0009477 | Proximal/middle symphalangism of 4th finger |
| HP:0009308 | Symphalangism of middle phalanx of 4th finger |
| HP:0009478 | Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal |
| HP:0009314 | Symphalangism affecting the proximal phalanx of the 4th finger |
| HP:0010469 | Absent testis |
| http://purl.obolibrary.org/obo/GO_1903561 | extracellular vesicle |
| http://purl.obolibrary.org/obo/GO_1903565 | negative regulation of protein localization to cilium |
| http://purl.obolibrary.org/obo/GO_1903566 | positive regulation of protein localization to cilium |
| http://purl.obolibrary.org/obo/GO_1903564 | regulation of protein localization to cilium |
| http://purl.obolibrary.org/obo/UBERON_0010339 | 1st arch mandibular mesenchyme from head mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010338 | 1st arch maxillary mesenchyme from head mesenchyme |
| HP:0009402 | Stippling of the epiphyses of the 4th finger |
| HP:0009403 | Triangular epiphyses of the 4th finger |
| HP:0009400 | Pseudoepiphyses of the 4th finger |
| HP:0009401 | Small epiphyses of the 4th finger |
| HP:0009406 | Patchy sclerosis of 4th finger phalanx |
| HP:0100920 | Sclerosis of 4th finger phalanx |
| HP:0009407 | Triangular shaped phalanges of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010332 | epithelium of handplate |
| HP:0009404 | Broad phalanges of the 4th finger |
| HP:0009405 | Bullet-shaped phalanges of the 4th finger |
| http://purl.obolibrary.org/obo/CHEBI_52090 | methoxide |
| http://purl.obolibrary.org/obo/UBERON_0010337 | mandibular process mesenchyme from head mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010336 | mandibular process mesenchyme from neural crest |
| HP:0009408 | Aplasia/Hypoplasia of the phalanges of the 4th finger |
| http://purl.obolibrary.org/obo/UBERON_0010335 | maxillary process mesenchyme from head mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010334 | maxillary process mesenchyme from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0009526 | maxillary process mesenchyme |
| http://purl.obolibrary.org/obo/GO_1903552 | negative regulation of extracellular exosome assembly |
| HP:0010400 | Patchy sclerosis of the proximal phalanx of the 2nd toe |
| HP:0100931 | Sclerosis of the proximal phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/GO_1903553 | positive regulation of extracellular exosome assembly |
| http://purl.obolibrary.org/obo/GO_1903551 | regulation of extracellular exosome assembly |
| HP:0009410 | Absent epiphyses of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0010349 | otic capsule pre-cartilage condensation |
| HP:0009413 | Enlarged epiphyses of the 3rd finger |
| HP:0009414 | Fragmentation of the epiphyses of the 3rd finger |
| HP:0009411 | Bracket epiphyses of the 3rd finger |
| HP:0009417 | Pseudoepiphyses of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0010344 | 3rd arch mesenchyme from head mesenchyme |
| HP:0010402 | Triangular shaped proximal phalanx of the 2nd toe |
| HP:0009418 | Small epiphyses of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0010343 | 2nd arch mesenchyme from head mesenchyme |
| HP:0009415 | Irregular epiphyses of the 3rd finger |
| HP:0010404 | Aplasia/Hypoplasia of the middle phalanx of the 2nd toe |
| HP:0009416 | Ivory epiphyses of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0010341 | 1st arch mesenchyme from head mesenchyme |
| HP:0010405 | Broad middle phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0010348 | hyoid pre-muscle mass |
| HP:0010406 | Bullet-shaped middle phalanx of the 2nd toe |
| HP:0010196 | Bullet-shaped middle toe phalanx |
| http://purl.obolibrary.org/obo/UBERON_0010347 | 6th arch mesenchyme from head mesenchyme |
| HP:0010407 | Curved middle phalanx of the 2nd toe |
| HP:0009419 | Stippling of the epiphyses of the 3rd finger |
| HP:0010408 | Osteolytic defects of the middle phalanx of the 2nd toe |
| HP:0010198 | Osteolytic defects of the middle phalanges of the toes |
| http://purl.obolibrary.org/obo/UBERON_0010345 | 4th arch mesenchyme from head mesenchyme |
| HP:0010409 | Patchy sclerosis of the middle phalanx of the 2nd toe |
| HP:0100935 | Sclerosis of the middle phalanx of the 2nd toe |
| HP:0010411 | Triangular shaped middle phalanx of the 2nd toe |
| HP:0010201 | Triangular shaped middle phalanges of the toes |
| http://purl.obolibrary.org/obo/UBERON_0022360 | male mammary gland duct |
| http://purl.obolibrary.org/obo/UBERON_2001947 | hyomandibular-otic region joint |
| HP:0009420 | Triangular epiphyses of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0022361 | lung field |
| HP:0009424 | Osteolytic defects of the distal phalanx of the 3rd finger |
| HP:0009425 | Patchy sclerosis of the distal phalanx of the 3rd finger |
| HP:0100901 | Sclerosis of the distal phalanx of the 3rd finger |
| http://purl.obolibrary.org/obo/GO_0098632 | cell-cell adhesion mediator activity |
| http://purl.obolibrary.org/obo/GO_0098631 | cell adhesion mediator activity |
| HP:0009422 | Broad distal phalanx of the 3rd finger |
| HP:0009423 | Bullet-shaped distal phalanx of the 3rd finger |
| http://purl.obolibrary.org/obo/GO_0060004 | reflex |
| HP:0009428 | Curved distal phalanx of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0010355 | ossification center |
| HP:0010413 | Aplasia/Hypoplasia of the distal phalanx of the 2nd toe |
| HP:0010347 | Aplasia/Hypoplasia of the phalanges of the 2nd toe |
| HP:0010325 | Aplasia/Hypoplasia of the 2nd toe |
| HP:0009429 | Aplasia of the distal phalanx of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0010354 | Reichert's cartilage pre-cartilage condensation |
| HP:0010414 | Broad distal phalanx of the 2nd toe |
| HP:0010348 | Broad phalanges of the 2nd toe |
| HP:0009426 | Distal/middle symphalangism of 3rd finger |
| HP:0010415 | Bullet-shaped distal phalanx of the 2nd toe |
| HP:0010349 | Bullet-shaped 2nd toe phalanx |
| HP:0010187 | Bullet-shaped distal toe phalanx |
| HP:0009427 | Triangular shaped distal phalanx of the 3rd finger |
| HP:0010416 | Curved distal phalanx of the 2nd toe |
| HP:0010350 | Curved 2nd toe phalanx |
| HP:0010417 | Osteolytic defects of the distal phalanx of the 2nd toe |
| HP:0010351 | Osteolytic defects of the phalanges of the 2nd toe |
| HP:0010418 | Patchy sclerosis of the distal phalanx of the 2nd toe |
| HP:0100939 | Sclerosis of the distal phalanx of the 2nd toe |
| HP:0010352 | Patchy sclerosis of 2nd toe phalanx |
| HP:0100926 | Sclerosis of 2nd toe phalanx |
| HP:0010419 | Symphalangism affecting the distal phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0010362 | endoskeleton |
| HP:0010420 | Triangular shaped distal phalanx of the 2nd toe |
| HP:0010354 | Triangular shaped phalanges of the 2nd toe |
| HP:0010192 | Triangular shaped distal phalanges of the toes |
| http://purl.obolibrary.org/obo/GO_0050687 | negative regulation of defense response to virus |
| http://purl.obolibrary.org/obo/GO_0050688 | regulation of defense response to virus |
| http://purl.obolibrary.org/obo/UBERON_0010360 | pharyngeal arch mesenchyme from head mesenchyme |
| HP:0010422 | Complete duplication of the proximal phalanx of the 2nd toe |
| HP:0010423 | Partial duplication of the proximal phalanx of the 2nd toe |
| HP:0010403 | Duplication of the proximal phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0022357 | mesentery of ileum |
| http://purl.obolibrary.org/obo/UBERON_0022355 | basal layer of endometrium |
| HP:0009431 | Bullet-shaped middle phalanx of the 3rd finger |
| HP:0009441 | Bullet-shaped phalanges of the 3rd finger |
| HP:0009432 | Curved middle phalanx of the 3rd finger |
| HP:0009442 | Curved phalanges of the 3rd finger |
| HP:0009430 | Broad middle phalanx of the 3rd finger |
| HP:0009440 | Broad phalanges of the 3rd finger |
| HP:0009435 | Symphalangism of middle phalanx of 3rd finger |
| HP:0009445 | Symphalangism of the 3rd finger |
| HP:0009436 | Triangular shaped middle phalanx of the 3rd finger |
| HP:0009446 | Triangular shaped phalanges of the 3rd finger |
| HP:0009433 | Osteolytic defects of the middle phalanx of the 3rd finger |
| HP:0009443 | Osteolytic defects of the phalanges of the 3rd finger |
| HP:0009434 | Patchy sclerosis of the middle phalanx of the 3rd finger |
| HP:0100905 | Sclerosis of the middle phalanx of the 3rd finger |
| HP:0009444 | Patchy sclerosis of 3rd finger phalanx |
| HP:0100919 | Sclerosis of 3rd finger phalanx |
| HP:0009439 | Short middle phalanx of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0010366 | conjunctival vasculature |
| HP:0010424 | Complete duplication of the distal phalanx of the 2nd toe |
| HP:0010425 | Partial duplication of the distal phalanx of the 2nd toe |
| HP:0010421 | Duplication of the distal phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0010364 | dermal skeleton |
| HP:0010426 | Complete duplication of the middle phalanx of the 2nd toe |
| HP:0009438 | Absent middle phalanx of 3rd finger |
| HP:0009437 | Aplasia/Hypoplasia of the middle phalanx of the 3rd finger |
| HP:0009460 | Aplasia of the 3rd finger |
| HP:0010427 | Partial duplication of the middle phalanx of the 2nd toe |
| HP:0010412 | Duplication of the middle phalanx of the 2nd toe |
| HP:0010428 | Partial duplication of phalanx of the 2nd toe |
| HP:0010429 | Complete duplication of the phalanges of the 2nd toe |
| HP:0010355 | Duplication of the phalanges of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0010368 | pulmonary lobule |
| http://purl.obolibrary.org/obo/UBERON_0010367 | conjunctival vein |
| http://purl.obolibrary.org/obo/UBERON_0000978 | leg |
| http://purl.obolibrary.org/obo/UBERON_0000977 | pleura |
| http://purl.obolibrary.org/obo/UBERON_0000979 | tibia |
| http://purl.obolibrary.org/obo/UBERON_0015004 | tibia endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0000974 | neck |
| http://purl.obolibrary.org/obo/UBERON_0000976 | humerus |
| http://purl.obolibrary.org/obo/UBERON_0000975 | sternum |
| http://purl.obolibrary.org/obo/CHEBI_39015 | apolipoprotein |
| http://purl.obolibrary.org/obo/UBERON_0000989 | penis |
| http://purl.obolibrary.org/obo/UBERON_0000988 | pons |
| http://purl.obolibrary.org/obo/UBERON_0000981 | femur |
| HP:0200096 | Triangular-shaped open mouth |
| HP:0000207 | Triangular mouth |
| HP:0000194 | Open mouth |
| HP:0200097 | Oral mucosal blisters |
| http://purl.obolibrary.org/obo/CHEBI_27024 | toluenes |
| http://purl.obolibrary.org/obo/UBERON_0000983 | metatarsus region |
| http://purl.obolibrary.org/obo/CHEBI_27026 | toxin |
| http://purl.obolibrary.org/obo/UBERON_0000985 | axillary vein |
| HP:0200094 | Frontal open bite |
| HP:0200095 | Anterior open bite |
| http://purl.obolibrary.org/obo/UBERON_0010306 | bulbar conjunctiva |
| http://purl.obolibrary.org/obo/UBERON_0010309 | palpebral bone |
| http://purl.obolibrary.org/obo/UBERON_0000999 | ejaculatory duct |
| http://purl.obolibrary.org/obo/UBERON_0000993 | oviduct |
| http://purl.obolibrary.org/obo/UBERON_0000996 | vagina |
| http://purl.obolibrary.org/obo/UBERON_0000998 | seminal vesicle |
| http://purl.obolibrary.org/obo/UBERON_0000997 | mammalian vulva |
| http://purl.obolibrary.org/obo/UBERON_0010312 | immature eye |
| http://purl.obolibrary.org/obo/UBERON_0010328 | limb bud mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010321 | skeletal element of eye region |
| http://purl.obolibrary.org/obo/CHEBI_39026 | low-density lipoprotein |
| http://purl.obolibrary.org/obo/CHEBI_6495 | lipoprotein |
| http://purl.obolibrary.org/obo/CHEBI_39024 | clathrate compound |
| http://purl.obolibrary.org/obo/CHEBI_39022 | inclusion compound |
| http://purl.obolibrary.org/obo/UBERON_0010323 | cranial skeletal system |
| http://purl.obolibrary.org/obo/CHEBI_76042 | aromatic amino-acid zwitterion |
| HP:0010472 | Abnormal circulating porphyrin concentration |
| HP:0010473 | Porphyrinuria |
| HP:0010474 | Bladder stones |
| http://purl.obolibrary.org/obo/UBERON_0000935 | anterior commissure |
| http://purl.obolibrary.org/obo/UBERON_0005341 | ventral commissure |
| HP:0010475 | Cloacal exstrophy |
| HP:0012620 | Cloacal abnormality |
| HP:0010477 | Aplasia of the bladder |
| http://purl.obolibrary.org/obo/UBERON_0022302 | short ciliary nerve |
| http://purl.obolibrary.org/obo/PATO_0001784 | bifurcated |
| HP:0550005 | Bilateral basilar pulmonary fibrosis |
| HP:0002206 | Pulmonary fibrosis |
| HP:0550004 | Verruca plana |
| HP:0550003 | Proximal scleroderma |
| http://purl.obolibrary.org/obo/UBERON_0000930 | stomodeum |
| http://purl.obolibrary.org/obo/PATO_0001780 | dystrophic |
| http://purl.obolibrary.org/obo/PATO_0001783 | decreased intensity |
| http://purl.obolibrary.org/obo/PATO_0001782 | increased intensity |
| HP:0010470 | Supernumerary testes |
| http://purl.obolibrary.org/obo/UBERON_0000931 | proctodeum |
| http://purl.obolibrary.org/obo/PATO_0001790 | decreased mass density |
| HP:0010479 | Patent urachus |
| http://purl.obolibrary.org/obo/UBERON_0000945 | stomach |
| HP:0010482 | Acromelia of the upper limbs |
| HP:0010483 | Amniotic constriction rings of arms |
| HP:0010485 | Hyperextensibility at elbow |
| http://purl.obolibrary.org/obo/UBERON_0000949 | endocrine system |
| http://purl.obolibrary.org/obo/PATO_0001778 | increased strength |
| http://purl.obolibrary.org/obo/UBERON_0000948 | heart |
| http://purl.obolibrary.org/obo/UBERON_0007100 | primary circulatory organ |
| http://purl.obolibrary.org/obo/PATO_0001777 | decreased flexibility |
| HP:0010487 | Small hypothenar eminence |
| HP:0010486 | Abnormality of the hypothenar eminence |
| http://purl.obolibrary.org/obo/PATO_0001779 | decreased strength |
| http://purl.obolibrary.org/obo/PATO_0001230 | strength |
| HP:0010489 | Absent palmar crease |
| http://purl.obolibrary.org/obo/PATO_0001776 | increased flexibility |
| http://purl.obolibrary.org/obo/PATO_0001544 | flexible |
| http://purl.obolibrary.org/obo/PATO_0001543 | flexibility |
| http://purl.obolibrary.org/obo/UBERON_0000941 | cranial nerve II |
| HP:0009499 | Abnormality of the epiphysis of the distal phalanx of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0000956 | cerebral cortex |
| HP:0010494 | Acromelia of the lower limbs |
| HP:0010495 | Amniotic constriction rings of legs |
| HP:0010497 | Sirenomelia |
| http://purl.obolibrary.org/obo/UBERON_0000959 | optic chiasma |
| http://purl.obolibrary.org/obo/UBERON_0007425 | decussation of diencephalon |
| HP:0010498 | Bipartite patella |
| HP:0010499 | Patellar subluxation |
| http://purl.obolibrary.org/obo/UBERON_0000951 | rotator muscle of the vertebral column |
| HP:0010491 | Digital constriction ring |
| HP:0010492 | Osseous finger syndactyly |
| http://purl.obolibrary.org/obo/CHEBI_27093 | tricarboxylic acid |
| http://purl.obolibrary.org/obo/GO_0060084 | synaptic transmission involved in micturition |
| http://purl.obolibrary.org/obo/UBERON_0000966 | retina |
| http://purl.obolibrary.org/obo/UBERON_0005388 | photoreceptor array |
| http://purl.obolibrary.org/obo/CHEBI_78675 | fundamental metabolite |
| http://purl.obolibrary.org/obo/PATO_0001796 | decreased coiling |
| http://purl.obolibrary.org/obo/PATO_0001795 | increased coiling |
| http://purl.obolibrary.org/obo/UBERON_0000962 | nerve of cervical vertebra |
| http://purl.obolibrary.org/obo/UBERON_0000965 | lens of camera-type eye |
| http://purl.obolibrary.org/obo/UBERON_0005389 | transparent eye structure |
| http://purl.obolibrary.org/obo/PATO_0001793 | right side of |
| http://purl.obolibrary.org/obo/UBERON_0000964 | cornea |
| HP:0200028 | Pretibial myxedema |
| HP:0200023 | Priapism |
| http://purl.obolibrary.org/obo/GO_2001200 | positive regulation of dendritic cell differentiation |
| http://purl.obolibrary.org/obo/GO_2001198 | regulation of dendritic cell differentiation |
| HP:0200025 | Mandibular pain |
| HP:0200021 | Down-sloping shoulders |
| HP:0200022 | Choroid plexus papilloma |
| http://purl.obolibrary.org/obo/CL_0000339 | glioblast (sensu Vertebrata) |
| http://purl.obolibrary.org/obo/CL_0000030 | glioblast |
| http://purl.obolibrary.org/obo/CL_0000123 | neuron associated cell (sensu Vertebrata) |
| http://purl.obolibrary.org/obo/PATO_0001908 | multinucleate |
| HP:0200016 | Acrokeratosis |
| HP:0200017 | Cerebral white matter agenesis |
| http://purl.obolibrary.org/obo/PR_000027223 | CALCA gene translation product (mouse) |
| HP:0200018 | Protanomaly |
| http://purl.obolibrary.org/obo/PR_000027222 | CALCA gene translation product |
| HP:0200012 | Short corpus callosum |
| HP:0200015 | Symmetric great toe depigmentation |
| http://purl.obolibrary.org/obo/CHEBI_17650 | cortisol |
| http://purl.obolibrary.org/obo/CHEBI_138141 | 17alpha-hydroxy-C21-steroid |
| HP:0200011 | Abnormal length of corpus callosum |
| http://purl.obolibrary.org/obo/CL_0000329 | oxygen accumulating cell |
| http://purl.obolibrary.org/obo/CL_0000328 | myelin accumulating cell |
| HP:0200049 | Upper limb hypertonia |
| http://purl.obolibrary.org/obo/UBERON_0000913 | interstitial fluid |
| http://purl.obolibrary.org/obo/UBERON_0000916 | abdomen |
| http://purl.obolibrary.org/obo/PATO_0001921 | mislocalised anteriorly |
| HP:0200046 | Cat cry |
| http://purl.obolibrary.org/obo/UBERON_0000915 | thoracic segment of trunk |
| http://purl.obolibrary.org/obo/CL_0000355 | multi-potent skeletal muscle stem cell |
| HP:0200047 | Chondritis of pinna |
| http://purl.obolibrary.org/obo/PATO_0001923 | mislocalised laterally |
| HP:0200048 | Cyanotic episode |
| http://purl.obolibrary.org/obo/PATO_0001922 | mislocalised posteriorly |
| HP:0200041 | Skin erosion |
| HP:0200044 | Porokeratosis |
| http://purl.obolibrary.org/obo/CHEBI_30623 | oxalate(2-) |
| http://purl.obolibrary.org/obo/GO_0023019 | signal transduction involved in regulation of gene expression |
| http://purl.obolibrary.org/obo/PATO_0001928 | blistered |
| HP:0200039 | Pustule |
| http://purl.obolibrary.org/obo/PATO_0001910 | folded |
| http://purl.obolibrary.org/obo/PATO_0001925 | surface feature shape |
| http://purl.obolibrary.org/obo/UBERON_0000929 | pharyngeal branch of vagus nerve |
| HP:0200030 | Punctate vasculitis skin lesions |
| HP:0200029 | Vasculitis in the skin |
| HP:0200032 | Kayser-Fleischer ring |
| http://purl.obolibrary.org/obo/PR_P15976 | PR:P15976 located_in GO:0005654 |
| http://purl.obolibrary.org/obo/PATO_0001919 | mislocalised dorsally |
| http://purl.obolibrary.org/obo/PATO_0001948 | furrowed |
| HP:0200067 | Recurrent spontaneous abortion |
| HP:0200068 | Nonprogressive visual loss |
| http://purl.obolibrary.org/obo/CL_0000377 | tracheoblast |
| http://purl.obolibrary.org/obo/CL_0000069 | branched duct epithelial cell |
| HP:0200063 | Colorectal polyposis |
| HP:0100743 | Neoplasm of the rectum |
| HP:0200066 | Ribbonlike corneal degeneration |
| http://purl.obolibrary.org/obo/PATO_0001940 | gigantic |
| http://purl.obolibrary.org/obo/GO_2001252 | positive regulation of chromosome organization |
| http://purl.obolibrary.org/obo/CL_0000381 | neurosecretory neuron |
| http://purl.obolibrary.org/obo/PATO_0001938 | rhomboid |
| http://purl.obolibrary.org/obo/PATO_0001937 | spatulate |
| HP:0200057 | Marcus Gunn pupil |
| HP:0200059 | Metastatic angiosarcoma |
| HP:0200058 | Angiosarcoma |
| HP:0200053 | Hemihypotrophy of lower limb |
| HP:0200054 | Foot monodactyly |
| HP:0200055 | Small hand |
| HP:0200050 | Bracket metacarpal epiphyses |
| http://purl.obolibrary.org/obo/CHEBI_15035 | retinal |
| http://purl.obolibrary.org/obo/CL_1001433 | epithelial cell of exocrine pancreas |
| http://purl.obolibrary.org/obo/CL_0000083 | epithelial cell of pancreas |
| http://purl.obolibrary.org/obo/GO_2001224 | positive regulation of neuron migration |
| http://purl.obolibrary.org/obo/GO_2001223 | negative regulation of neuron migration |
| http://purl.obolibrary.org/obo/GO_2001222 | regulation of neuron migration |
| HP:0200083 | Severe limb shortening |
| HP:0200084 | Giant cell hepatitis |
| http://purl.obolibrary.org/obo/CHEBI_30660 | thyroxine |
| http://purl.obolibrary.org/obo/CHEBI_30661 | thyronine |
| http://purl.obolibrary.org/obo/PATO_0001958 | increased variability of size |
| http://purl.obolibrary.org/obo/PATO_0001957 | decreased variability of size |
| http://purl.obolibrary.org/obo/PATO_0001956 | variability of size |
| http://purl.obolibrary.org/obo/PATO_0001303 | variability |
| http://purl.obolibrary.org/obo/PATO_0001955 | cuneate |
| HP:0200070 | Peripheral retinal atrophy |
| HP:0200071 | Peripheral vitreoretinal degeneration |
| HP:0200072 | Episodic quadriplegia |
| HP:0002445 | Tetraplegia |
| HP:0200073 | Respiratory insufficiency due to defective ciliary clearance |
| HP:0012261 | Abnormal respiratory motile cilium physiology |
| HP:0009608 | Complete duplication of proximal phalanx of the thumb |
| HP:0009606 | Complete duplication of distal phalanx of the thumb |
| http://purl.obolibrary.org/obo/GO_0050669 | negative regulation of homocysteine metabolic process |
| http://purl.obolibrary.org/obo/GO_0050668 | positive regulation of homocysteine metabolic process |
| http://purl.obolibrary.org/obo/GO_0050666 | regulation of homocysteine metabolic process |
| http://purl.obolibrary.org/obo/GO_0050667 | homocysteine metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0022299 | upper eyelid nerve |
| HP:0010608 | Hordeolum internum |
| HP:0010609 | Skin tags |
| http://purl.obolibrary.org/obo/UBERON_0022296 | inferior palpebral branch of infra-orbital nerve |
| http://purl.obolibrary.org/obo/UBERON_0022297 | palpebral branch of infra-orbital nerve |
| HP:0009611 | Bifid distal phalanx of the thumb |
| HP:0009612 | Duplication of the distal phalanx of the thumb |
| http://purl.obolibrary.org/obo/UBERON_0022292 | splenic arteriole |
| http://purl.obolibrary.org/obo/PR_P13379 | T-cell surface glycoprotein CD5 (mouse) |
| HP:0009615 | Complete duplication of the first metacarpal |
| HP:0009616 | Bifid first metacarpal |
| HP:0009609 | Duplication of the 1st metacarpal |
| HP:0010602 | Type 2 muscle fiber predominance |
| HP:0009614 | Bifid proximal phalanx of the thumb |
| HP:0009613 | Duplication of the proximal phalanx of the thumb |
| HP:0010603 | Odontogenic keratocysts of the jaw |
| HP:0010605 | Chalazion |
| HP:0010604 | Cyst of the eyelid |
| HP:0200040 | Epidermoid cyst |
| HP:0010607 | Hordeolum externum |
| HP:0010606 | Hordeolum |
| HP:0010610 | Palmar pits |
| http://purl.obolibrary.org/obo/UBERON_0022287 | tear film |
| http://purl.obolibrary.org/obo/UBERON_0022288 | surface of eyeball |
| HP:0010619 | Fibroadenoma of the breast |
| http://purl.obolibrary.org/obo/UBERON_0022284 | lacrimal gland bud |
| HP:0009622 | Distally placed thumb |
| HP:0009623 | Proximal placement of thumb |
| HP:0009626 | Contractures of the interphalangeal joint of the thumb |
| HP:0010612 | Plantar pits |
| HP:0009624 | Contractures of the carpometacarpal joint of the thumb |
| http://purl.obolibrary.org/obo/GO_0001649 | osteoblast differentiation |
| HP:0009625 | Contractures of the metacarpophalangeal joint of the thumb |
| HP:0009600 | Flexion contracture of thumb |
| HP:0010616 | Lung fibroma |
| HP:0010617 | Cardiac fibroma |
| HP:0010618 | Ovarian fibroma |
| HP:0010620 | Malar prominence |
| HP:0012369 | Abnormality of malar bones |
| http://purl.obolibrary.org/obo/UBERON_0022278 | nucleus of pudendal nerve |
| http://purl.obolibrary.org/obo/GO_1903729 | regulation of plasma membrane organization |
| HP:0009630 | Broad proximal phalanx of the thumb |
| HP:0009633 | Osteolytic defect of the proximal phalanx of the thumb |
| HP:0009634 | Patchy sclerosis of the proximal phalanx of the thumb |
| HP:0100913 | Sclerosis of the proximal phalanx of the thumb |
| HP:0009631 | Bullet-shaped proximal phalanx of the thumb |
| HP:0009632 | Curved proximal phalanx of the thumb |
| HP:0009637 | Absent proximal phalanx of thumb |
| HP:0009638 | Short proximal phalanx of thumb |
| HP:0009629 | Aplasia/Hypoplasia of the proximal phalanx of the thumb |
| HP:0009636 | Triangular shaped proximal phalanx of the thumb |
| HP:0010626 | Anterior pituitary agenesis |
| HP:0010627 | Anterior pituitary hypoplasia |
| HP:0010625 | Anterior pituitary dysgenesis |
| http://purl.obolibrary.org/obo/UBERON_0010295 | substantia propria of sclera |
| http://purl.obolibrary.org/obo/UBERON_0010294 | scleral endothelium |
| http://purl.obolibrary.org/obo/UBERON_0010291 | layer of sclera |
| http://purl.obolibrary.org/obo/NCBITaxon_4751 | Fungi |
| http://purl.obolibrary.org/obo/GO_0001667 | ameboidal-type cell migration |
| http://purl.obolibrary.org/obo/UBERON_0010299 | scleral mesenchyme |
| http://purl.obolibrary.org/obo/PR_P01350 | gastrin (human) |
| http://purl.obolibrary.org/obo/GO_1903715 | regulation of aerobic respiration |
| http://purl.obolibrary.org/obo/CHEBI_17612 | (3,4-dihydroxyphenyl)acetate |
| http://purl.obolibrary.org/obo/GO_0001659 | temperature homeostasis |
| HP:0200006 | Slanting of the palpebral fissure |
| HP:0200001 | Dysharmonic accelerated bone age |
| HP:0200003 | Splayed epiphyses |
| http://purl.obolibrary.org/obo/CL_0000317 | sebum secreting cell |
| http://purl.obolibrary.org/obo/CL_0000152 | exocrine cell |
| http://purl.obolibrary.org/obo/CL_0000307 | tracheal epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002202 | epithelial cell of tracheobronchial tree |
| http://purl.obolibrary.org/obo/CL_0002632 | epithelial cell of lower respiratory tract |
| http://purl.obolibrary.org/obo/CL_0002368 | respiratory epithelial cell |
| http://purl.obolibrary.org/obo/CL_0000306 | crystallin accumulating cell |
| http://purl.obolibrary.org/obo/CL_0000325 | stuff accumulating cell |
| http://purl.obolibrary.org/obo/GO_0001676 | long-chain fatty acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0001675 | acrosome assembly |
| http://purl.obolibrary.org/obo/UBERON_0010252 | 1st arch mandibular mesenchyme from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0009584 | 1st arch mandibular mesenchyme |
| HP:0010553 | Oculogyric crisis |
| HP:0009570 | Bullet-shaped middle phalanx of the 2nd finger |
| HP:0009571 | Curved middle phalanx of the 2nd finger |
| HP:0009563 | Distal/middle symphalangism of 2nd finger |
| HP:0009564 | Triangular shaped distal phalanx of the 2nd finger |
| HP:0009561 | Osteolytic defects of the distal phalanx of the 2nd finger |
| HP:0009562 | Patchy sclerosis of the distal phalanx of the 2nd finger |
| HP:0100900 | Sclerosis of the distal phalanx of the 2nd finger |
| HP:0009565 | Aplasia of the distal phalanx of the 2nd finger |
| HP:0009566 | Short distal phalanx of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010256 | 4th arch mesenchyme from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0005691 | 4th arch mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010255 | 3rd arch mesenchyme from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0005690 | 3rd arch mesenchyme |
| HP:0010557 | Overlapping fingers |
| HP:0009569 | Broad middle phalanx of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010254 | 2nd arch mesenchyme from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0005689 | 2nd arch mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010253 | 1st arch maxillary mesenchyme from neural crest |
| HP:0010559 | Vertical clivus |
| HP:0010558 | Abnormality of the clivus |
| http://purl.obolibrary.org/obo/UBERON_0010259 | 1st arch mesenchyme from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0010257 | 6th arch mesenchyme from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0010359 | pharyngeal arch mesenchyme from neural crest |
| http://purl.obolibrary.org/obo/GO_1901052 | sarcosine metabolic process |
| HP:0010560 | Undulate clavicles |
| HP:0010561 | Undulate ribs |
| HP:0010562 | Keloid scar |
| HP:0010564 | Bifid epiglottis |
| http://purl.obolibrary.org/obo/UBERON_0010262 | operculum of brain |
| HP:0009581 | Broad proximal phalanx of the 2nd finger |
| HP:0009582 | Bullet-shaped proximal phalanx of the 2nd finger |
| HP:0009575 | Triangular shaped middle phalanx of the 2nd finger |
| HP:0009572 | Osteolytic defects of the middle phalanx of the 2nd finger |
| HP:0009573 | Patchy sclerosis of the middle phalanx of the 2nd finger |
| HP:0100904 | Sclerosis of the middle phalanx of the 2nd finger |
| HP:0009579 | Proximal/middle symphalangism of the 2nd finger |
| HP:0009574 | Symphalangism of middle phalanx of 2nd finger |
| HP:0009576 | Absent middle phalanx of 2nd finger |
| HP:0010239 | Aplasia of the middle phalanx of the hand |
| HP:0009577 | Short middle phalanx of the 2nd finger |
| HP:0009568 | Aplasia/Hypoplasia of the middle phalanx of the 2nd finger |
| HP:0010567 | Y-shaped metatarsals |
| HP:0010569 | Elevated 7-dehydrocholesterol |
| HP:0010570 | Low maternal serum alpha-fetoprotein |
| http://purl.obolibrary.org/obo/CL_2000093 | bronchus fibroblast of lung |
| http://purl.obolibrary.org/obo/CL_0002553 | fibroblast of lung |
| HP:0010571 | Elevated levels of phytanic acid |
| HP:0010575 | Dysplasia of the femoral head |
| http://purl.obolibrary.org/obo/UBERON_0010272 | hyoid apparatus |
| http://purl.obolibrary.org/obo/CL_2000095 | cord blood hematopoietic stem cell |
| http://purl.obolibrary.org/obo/CL_0002246 | peripheral blood stem cell |
| http://purl.obolibrary.org/obo/CL_0002352 | gestational hematopoietic stem cell |
| HP:0009593 | Peripheral Schwannoma |
| HP:0009590 | Unilateral vestibular Schwannoma |
| HP:0009585 | Patchy sclerosis of the proximal phalanx of the 2nd finger |
| HP:0100908 | Sclerosis of the proximal phalanx of the 2nd finger |
| HP:0009583 | Curved proximal phalanx of the 2nd finger |
| HP:0009584 | Osteolytic defects of the proximal phalanx of the 2nd finger |
| HP:0009589 | Bilateral vestibular Schwannoma |
| HP:0009587 | Triangular shaped proximal phalanx of the 2nd finger |
| HP:0009588 | Vestibular Schwannoma |
| http://purl.obolibrary.org/obo/UBERON_0010285 | midbrain basal plate |
| http://purl.obolibrary.org/obo/UBERON_0010284 | lacrimal punctum |
| HP:0010588 | Premature epimetaphyseal fusion |
| HP:0009596 | Aplasia of the proximal phalanx of the 2nd finger |
| HP:0010242 | Aplasia of the proximal phalanges of the hand |
| HP:0009597 | Short proximal phalanx of the 2nd finger |
| HP:0009580 | Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger |
| HP:0009595 | Occasional neurofibromas |
| http://purl.obolibrary.org/obo/UBERON_0009291 | cartilaginous vertebral centrum |
| HP:0009598 | Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal |
| HP:0009586 | Symphalangism affecting the proximal phalanx of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010286 | midbrain neural tube |
| HP:0010510 | Hypermobility of toe joints |
| HP:0009520 | Pseudoepiphysis of the middle phalanx of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010219 | thyroid pre-cartilage condensation |
| HP:0009523 | Triangular epiphysis of the middle phalanx of the 2nd finger |
| HP:0009524 | Absent epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009488 | Absent epiphyses of the 2nd finger |
| HP:0009521 | Small epiphysis of the middle phalanx of the 2nd finger |
| HP:0009522 | Stippling of the epiphysis of the middle phalanx of the 2nd finger |
| HP:0009500 | Abnormality of the epiphysis of the middle phalanx of the 2nd finger |
| HP:0009527 | Enlarged epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009491 | Enlarged epiphyses of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010212 | laryngeal apparatus |
| HP:0010512 | Adrenal calcification |
| HP:0009528 | Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger |
| HP:0010272 | Fragmentation of the epiphyses of the proximal phalanges of the hand |
| HP:0009492 | Fragmentation of the epiphyses of the 2nd finger |
| HP:0010513 | Pituitary calcification |
| HP:0009525 | Bracket epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009489 | Bracket epiphyses of the 2nd finger |
| HP:0009526 | Cone-shaped epiphysis of the proximal phalanx of the 2nd finger |
| HP:0010516 | Thymus hyperplasia |
| http://purl.obolibrary.org/obo/UBERON_0010215 | arytenoid swellings |
| HP:0010517 | Ectopic thymus tissue |
| HP:0009529 | Irregular epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009493 | Irregular epiphyses of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010214 | cricoid pre-cartilage condensation |
| HP:0010518 | Thyroglossal cyst |
| HP:0010519 | Increased fetal movement |
| HP:0010521 | Gait apraxia |
| HP:0010522 | Dyslexia |
| HP:0009530 | Ivory epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009494 | Ivory epiphyses of the 2nd finger |
| HP:0009531 | Pseudoepiphysis of the proximal phalanx of the 2nd finger |
| HP:0009495 | Pseudoepiphyses of the 2nd finger |
| HP:0009534 | Triangular epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009498 | Triangular epiphyses of the 2nd finger |
| HP:0009535 | Aplasia of the 2nd finger |
| HP:0009532 | Small epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009496 | Small epiphyses of the 2nd finger |
| HP:0009533 | Stippling of the epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009501 | Abnormality of the epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009497 | Stippling of the epiphyses of the 2nd finger |
| HP:0009538 | Contracture of the distal interphalangeal joint of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010223 | left pupil |
| HP:0010523 | Alexia |
| HP:0009539 | Contracture of the metacarpophalangeal joint of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010222 | anatomical line between pupils |
| HP:0009536 | Short 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010221 | laryngeal associated mesenchyme |
| HP:0010525 | Finger agnosia |
| http://purl.obolibrary.org/obo/UBERON_0010220 | arytenoid pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010213 | laryngeal pre-cartilage condensation |
| HP:0010526 | Dysgraphia |
| http://purl.obolibrary.org/obo/UBERON_0010227 | future cardiac atrium |
| HP:0010527 | Astereognosia |
| HP:0010528 | Prosopagnosia |
| http://purl.obolibrary.org/obo/UBERON_0010225 | thalamic complex |
| http://purl.obolibrary.org/obo/UBERON_0019269 | gray matter of diencephalon |
| HP:0010529 | Echolalia |
| http://purl.obolibrary.org/obo/UBERON_0010224 | right pupil |
| http://purl.obolibrary.org/obo/UBERON_0010230 | eyeball of camera-type eye |
| HP:0010530 | Palatal myoclonus |
| HP:0010531 | Spinal myoclonus |
| HP:0010532 | Paroxysmal vertigo |
| HP:0002321 | Vertigo |
| HP:0010533 | Spasmus nutans |
| http://purl.obolibrary.org/obo/UBERON_0022248 | cerebral nerve fasciculus |
| HP:0009540 | Contracture of the proximal interphalangeal joint of the 2nd finger |
| HP:0009537 | Flexion contracture of the 2nd finger |
| HP:0009545 | Symphalangism of the 2nd finger |
| HP:0009546 | Triangular shaped phalanges of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0010234 | palatopharyngeus muscle |
| HP:0010534 | Transient global amnesia |
| http://purl.obolibrary.org/obo/UBERON_0010233 | stroma of thyroid gland |
| HP:0010536 | Central sleep apnea |
| HP:0010535 | Sleep apnea |
| http://purl.obolibrary.org/obo/UBERON_0010231 | anatomical line between outer ears |
| HP:0010538 | Small sella turcica |
| HP:0010539 | Thin calvarium |
| http://purl.obolibrary.org/obo/UBERON_0010235 | uvular muscle |
| HP:0010540 | Advanced pneumatization of cranial sinuses |
| HP:0010541 | Cutis gyrata of scalp |
| HP:0010542 | Vestibular nystagmus |
| HP:0010543 | Opsoclonus |
| http://purl.obolibrary.org/obo/UBERON_0022236 | peduncle of thalamus |
| HP:0046507 | Bradypnea |
| HP:0009560 | Curved distal phalanx of the 2nd finger |
| HP:0009549 | Curved phalanges of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0022235 | peduncle of diencephalon |
| HP:0009550 | Osteolytic defects of the phalanges of the 2nd finger |
| HP:0009551 | Patchy sclerosis of 2nd finger phalanx |
| HP:0100918 | Sclerosis of 2nd finger phalanx |
| HP:0009556 | Absent tibia |
| HP:0009557 | Aplasia/Hypoplasia of the distal phalanx of the 2nd finger |
| HP:0009552 | Aplasia/Hypoplasia of the phalanges of the 2nd finger |
| HP:0009554 | Preauricular hair displacement |
| HP:0009555 | Hypoplasia of the pharynx |
| HP:0010545 | Downbeat nystagmus |
| HP:0009558 | Broad distal phalanx of the 2nd finger |
| HP:0009547 | Broad phalanges of the 2nd finger |
| HP:0009559 | Bullet-shaped distal phalanx of the 2nd finger |
| HP:0009548 | Bullet-shaped phalanges of the 2nd finger |
| http://purl.obolibrary.org/obo/PATO_0001869 | pathological |
| http://purl.obolibrary.org/obo/CL_2000030 | hypothalamus native cell |
| http://purl.obolibrary.org/obo/PATO_0001863 | chronic |
| http://purl.obolibrary.org/obo/PATO_0001860 | decreased coordination |
| http://purl.obolibrary.org/obo/CHEBI_30566 | gamma-aminobutyrate |
| http://purl.obolibrary.org/obo/CL_2000021 | sebaceous gland native cell |
| http://purl.obolibrary.org/obo/CL_2000025 | spinal cord oligodendrocyte |
| http://purl.obolibrary.org/obo/CL_0000128 | oligodendrocyte |
| http://purl.obolibrary.org/obo/PATO_0001859 | increased coordination |
| http://purl.obolibrary.org/obo/PATO_0001855 | horizontal |
| http://purl.obolibrary.org/obo/CL_2000042 | embryonic fibroblast |
| http://purl.obolibrary.org/obo/PATO_0001854 | vertical |
| http://purl.obolibrary.org/obo/PATO_0001851 | swollen |
| http://purl.obolibrary.org/obo/PATO_0001850 | scarred |
| http://purl.obolibrary.org/obo/PATO_0001883 | clavate |
| http://purl.obolibrary.org/obo/UBERON_0009205 | lateral nasal process mesenchyme |
| http://purl.obolibrary.org/obo/CL_2000001 | peripheral blood mononuclear cell |
| http://purl.obolibrary.org/obo/CL_0000080 | circulating cell |
| http://purl.obolibrary.org/obo/UBERON_0009204 | medial nasal process mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0009501 | mesenchyme of fronto-nasal process |
| http://purl.obolibrary.org/obo/UBERON_0009206 | lateral nasal process surface ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0009201 | nephric duct |
| http://purl.obolibrary.org/obo/CL_2000005 | brain macroglial cell |
| http://purl.obolibrary.org/obo/CL_0000126 | macroglial cell |
| http://purl.obolibrary.org/obo/CL_0000243 | glial cell (sensu Vertebrata) |
| http://purl.obolibrary.org/obo/CL_0000125 | glial cell |
| http://purl.obolibrary.org/obo/CL_0000095 | neuron associated cell |
| http://purl.obolibrary.org/obo/UBERON_0009200 | limb epidermis |
| http://purl.obolibrary.org/obo/UBERON_3000981 | limb external integument structure |
| http://purl.obolibrary.org/obo/UBERON_0009203 | internasal suture |
| http://purl.obolibrary.org/obo/CL_2000004 | pituitary gland cell |
| http://purl.obolibrary.org/obo/CL_2000020 | inner cell mass native cell |
| http://purl.obolibrary.org/obo/PATO_0001876 | dumbbell-shaped |
| http://purl.obolibrary.org/obo/PATO_0001879 | U-shaped |
| http://purl.obolibrary.org/obo/PATO_0001878 | sigmoid |
| http://purl.obolibrary.org/obo/PATO_0001872 | cuboid |
| http://purl.obolibrary.org/obo/PATO_0001875 | triangular |
| http://purl.obolibrary.org/obo/PATO_0001874 | discoid |
| http://purl.obolibrary.org/obo/PATO_0001873 | cylindrical |
| http://purl.obolibrary.org/obo/CL_2000018 | endothelial cell of coronary artery |
| http://purl.obolibrary.org/obo/CL_0010006 | cardiac blood vessel endothelial cell |
| http://purl.obolibrary.org/obo/CL_0010008 | cardiac endothelial cell |
| http://purl.obolibrary.org/obo/CL_2000012 | fibroblast of pedal digit skin |
| http://purl.obolibrary.org/obo/CL_2000013 | fibroblast of skin of abdomen |
| http://purl.obolibrary.org/obo/CL_2000010 | dermis blood vessel endothelial cell |
| http://purl.obolibrary.org/obo/CL_2000011 | dermis lymphatic vessel endothelial cell |
| http://purl.obolibrary.org/obo/CL_0002138 | endothelial cell of lymphatic vessel |
| http://purl.obolibrary.org/obo/CL_2000017 | fibroblast of peridontal ligament |
| http://purl.obolibrary.org/obo/CL_0002556 | fibroblast of periodontium |
| http://purl.obolibrary.org/obo/UBERON_0010204 | tail vasculature |
| http://purl.obolibrary.org/obo/CL_2000014 | fibroblast of upper leg skin |
| http://purl.obolibrary.org/obo/CL_2000015 | fibroblast of arm |
| http://purl.obolibrary.org/obo/UBERON_0009213 | pharyngeal membrane of 1st arch |
| http://purl.obolibrary.org/obo/UBERON_0009210 | pharyngeal membrane |
| http://purl.obolibrary.org/obo/CL_2000070 | optic choroid fibroblast |
| HP:0010592 | Abnormality of the distal tibial epiphysis |
| HP:0010595 | Abnormality of the distal fibular epiphysis |
| http://purl.obolibrary.org/obo/CL_2000074 | splenocyte |
| http://purl.obolibrary.org/obo/CL_2000073 | migratory cardiac neural crest cell |
| http://purl.obolibrary.org/obo/CL_0000333 | migratory neural crest cell |
| HP:0010599 | Abnormality of the distal humeral epiphysis |
| http://purl.obolibrary.org/obo/CL_2000067 | cardiac atrium fibroblast |
| http://purl.obolibrary.org/obo/CL_2000068 | pericardium fibroblast |
| http://purl.obolibrary.org/obo/CL_2000066 | cardiac ventricle fibroblast |
| http://purl.obolibrary.org/obo/CL_0002548 | fibroblast of cardiac tissue |
| http://purl.obolibrary.org/obo/CL_2000069 | gallbladder fibroblast |
| http://purl.obolibrary.org/obo/CL_2000080 | mesenchymal stem cell of abdominal adipose |
| http://purl.obolibrary.org/obo/CL_0002570 | mesenchymal stem cell of adipose |
| http://purl.obolibrary.org/obo/CL_2000085 | mononuclear cell of umbilical cord |
| http://purl.obolibrary.org/obo/PATO_0001899 | decreased circumference |
| http://purl.obolibrary.org/obo/PATO_0001713 | decreased perimeter |
| http://purl.obolibrary.org/obo/PATO_0001898 | increased circumference |
| http://purl.obolibrary.org/obo/PATO_0001712 | increased perimeter |
| http://purl.obolibrary.org/obo/PATO_0001648 | circumference |
| http://purl.obolibrary.org/obo/PATO_0001711 | perimeter |
| http://purl.obolibrary.org/obo/PATO_0001894 | phenotypic sex |
| http://purl.obolibrary.org/obo/PATO_0001891 | ovate |
| http://purl.obolibrary.org/obo/PATO_0001865 | spheroid |
| http://purl.obolibrary.org/obo/PATO_0001890 | tripartite |
| http://purl.obolibrary.org/obo/CL_2000079 | mesenchymal stem cell of femoral bone marrow |
| http://purl.obolibrary.org/obo/CL_0002540 | mesenchymal stem cell of the bone marrow |
| http://purl.obolibrary.org/obo/CL_0002092 | bone marrow cell |
| http://purl.obolibrary.org/obo/CL_2000076 | hindlimb stylopod vein endothelial cell |
| http://purl.obolibrary.org/obo/CL_0002543 | vein endothelial cell |
| http://purl.obolibrary.org/obo/CL_2000077 | skeletal muscle tissue of pectoralis major striated muscle cell |
| http://purl.obolibrary.org/obo/CL_2000052 | umbilical artery endothelial cell |
| http://purl.obolibrary.org/obo/CL_2000053 | splenic endothelial cell |
| http://purl.obolibrary.org/obo/CL_2000051 | splenic fibroblast |
| http://purl.obolibrary.org/obo/CL_2000046 | ventricular cardiac muscle cell |
| http://purl.obolibrary.org/obo/CL_2000047 | brainstem motor neuron |
| http://purl.obolibrary.org/obo/CL_2000048 | ventral horn of spinal cord spinal cord motor neuron |
| http://purl.obolibrary.org/obo/CL_2000060 | placental villous trophoblast |
| http://purl.obolibrary.org/obo/CL_2000063 | ovarian fibroblast |
| http://purl.obolibrary.org/obo/CL_2000064 | ovarian surface epithelial cell |
| http://purl.obolibrary.org/obo/CL_2000061 | placental amniotic mesenchymal stromal cell |
| http://purl.obolibrary.org/obo/CL_0000134 | mesenchymal stem cell |
| http://purl.obolibrary.org/obo/CL_2000062 | placental villus capillary endothelial cell |
| http://purl.obolibrary.org/obo/CL_0002577 | placental epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002144 | capillary endothelial cell |
| http://purl.obolibrary.org/obo/GO_0098589 | membrane region |
| http://purl.obolibrary.org/obo/GO_0098588 | bounding membrane of organelle |
| http://www.informatics.jax.org/marker/MGI:98747 | Thy1 (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_84735 | algal metabolite |
| http://purl.obolibrary.org/obo/GO_0106122 | negative regulation of cobalamin metabolic process |
| http://purl.obolibrary.org/obo/GO_0106121 | positive regulation of cobalamin metabolic process |
| http://purl.obolibrary.org/obo/NCBITaxon_33090 | Viridiplantae |
| http://purl.obolibrary.org/obo/PR_P27814 | killer cell lectin-like receptor subfamily B member 1C (mouse) |
| http://purl.obolibrary.org/obo/GO_1902553 | positive regulation of catalase activity |
| http://purl.obolibrary.org/obo/GO_1902552 | negative regulation of catalase activity |
| http://purl.obolibrary.org/obo/GO_1902551 | regulation of catalase activity |
| http://purl.obolibrary.org/obo/GO_0060348 | bone development |
| http://purl.obolibrary.org/obo/GO_0060343 | trabecula formation |
| http://purl.obolibrary.org/obo/PR_P01270 | parathyroid hormone (human) |
| HP:0008401 | Onychogryposis of toenails |
| HP:0008402 | Ridged fingernail |
| HP:0008400 | Onycholysis of distal fingernails |
| http://purl.obolibrary.org/obo/GO_0060351 | cartilage development involved in endochondral bone morphogenesis |
| http://purl.obolibrary.org/obo/GO_0060350 | endochondral bone morphogenesis |
| http://purl.obolibrary.org/obo/GO_0060349 | bone morphogenesis |
| HP:0008407 | Hyperconvex thumb nails |
| http://purl.obolibrary.org/obo/GO_1902533 | positive regulation of intracellular signal transduction |
| http://purl.obolibrary.org/obo/GO_1902532 | negative regulation of intracellular signal transduction |
| http://purl.obolibrary.org/obo/GO_1902531 | regulation of intracellular signal transduction |
| HP:0008410 | Subungual hyperkeratotic fragments |
| HP:0008416 | Six lumbar vertebrae |
| HP:0002946 | Supernumerary vertebrae |
| HP:0008414 | Lumbar kyphosis in infancy |
| HP:0008418 | Squared-off platyspondyly |
| HP:0008419 | Intervertebral disc degeneration |
| HP:0008420 | Punctate vertebral calcifications |
| HP:0008423 | Spinal dysplasia |
| HP:0008424 | Hypoplastic 5th lumbar vertebrae |
| HP:0008421 | Tall lumbar vertebral bodies |
| HP:0008425 | Cuboid-shaped thoracolumbar vertebral bodies |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12726 | VWF (human) |
| http://purl.obolibrary.org/obo/UBERON_0010172 | bulb of aorta |
| http://purl.obolibrary.org/obo/UBERON_0009191 | sphenoid bone pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010186 | male urethral gland |
| http://purl.obolibrary.org/obo/UBERON_0010183 | liver trabecula |
| http://purl.obolibrary.org/obo/UBERON_0009196 | indifferent external genitalia |
| http://purl.obolibrary.org/obo/UBERON_0009193 | sphenoid cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010189 | right atrium venous valve |
| http://purl.obolibrary.org/obo/UBERON_0010187 | female urethral gland |
| http://purl.obolibrary.org/obo/UBERON_0010191 | aortic system |
| http://purl.obolibrary.org/obo/UBERON_0010190 | pair of dorsal aortae |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1437 | CALCA (human) |
| http://purl.obolibrary.org/obo/UBERON_0010194 | hepatic portal system |
| http://purl.obolibrary.org/obo/PR_P37217 | early activation antigen CD69 (mouse) |
| HP:0008360 | Neonatal hypoproteinemia |
| HP:0008361 | Corticospinal tract pallor |
| http://purl.obolibrary.org/obo/UBERON_0009142 | entire embryonic mesenchyme |
| HP:0008354 | Factor X activation deficiency |
| HP:0008352 | Impaired platelet adhesion |
| HP:0008358 | Hyperprolinemia |
| http://purl.obolibrary.org/obo/UBERON_0010135 | sensory circumventricular organ |
| http://purl.obolibrary.org/obo/UBERON_0009145 | pharyngeal region of foregut |
| http://purl.obolibrary.org/obo/UBERON_0010141 | primitive sex cord of indifferent gonad |
| http://purl.obolibrary.org/obo/UBERON_0005295 | sex cord |
| HP:0008372 | Abnormality of vitamin A metabolism |
| HP:0008362 | Aplasia/Hypoplasia of the hallux |
| HP:0008363 | Aplasia/Hypoplasia of the tarsal bones |
| http://purl.obolibrary.org/obo/UBERON_0010143 | seminal vesicle fluid |
| http://purl.obolibrary.org/obo/GO_1902492 | positive regulation of sperm capacitation |
| http://purl.obolibrary.org/obo/GO_1903431 | positive regulation of cell maturation |
| http://purl.obolibrary.org/obo/GO_1902491 | negative regulation of sperm capacitation |
| http://purl.obolibrary.org/obo/GO_1903430 | negative regulation of cell maturation |
| http://purl.obolibrary.org/obo/UBERON_0010152 | skin mucus |
| HP:0008383 | Slow-growing nails |
| HP:0008376 | Nasal, dysarthic speech |
| http://purl.obolibrary.org/obo/UBERON_0010157 | sphenoparietal suture |
| http://purl.obolibrary.org/obo/UBERON_0010156 | sphenofrontal suture |
| http://purl.obolibrary.org/obo/UBERON_0010155 | parietomastoid suture |
| http://purl.obolibrary.org/obo/PR_P49238 | CX3C chemokine receptor 1 (human) |
| http://purl.obolibrary.org/obo/GO_0060285 | cilium-dependent cell motility |
| http://purl.obolibrary.org/obo/GO_0001539 | cilium or flagellum-dependent cell motility |
| http://purl.obolibrary.org/obo/GO_1902490 | regulation of sperm capacitation |
| http://purl.obolibrary.org/obo/GO_1903429 | regulation of cell maturation |
| http://purl.obolibrary.org/obo/UBERON_0010158 | sphenozygomatic suture |
| http://purl.obolibrary.org/obo/UBERON_0010160 | lumen of lymphatic vessel |
| http://purl.obolibrary.org/obo/UBERON_0010163 | eyebrow |
| http://purl.obolibrary.org/obo/UBERON_0010162 | post-anal tail tip |
| HP:0008390 | Recurrent loss of toenails and fingernails |
| HP:0008393 | Congenital curved nail of fourth toe |
| HP:0008394 | Congenital onychodystrophy |
| HP:0008391 | Dystrophic fingernails |
| HP:0008392 | Subungual hyperkeratosis |
| http://purl.obolibrary.org/obo/CHEBI_35744 | carbocyclic fatty acid |
| http://purl.obolibrary.org/obo/UBERON_0010168 | collection of eyelashes |
| http://purl.obolibrary.org/obo/UBERON_0010165 | collection of hair on face |
| http://purl.obolibrary.org/obo/GO_0060295 | regulation of cilium movement involved in cell motility |
| http://purl.obolibrary.org/obo/GO_0003352 | regulation of cilium movement |
| http://purl.obolibrary.org/obo/GO_0060294 | cilium movement involved in cell motility |
| http://purl.obolibrary.org/obo/GO_0003341 | cilium movement |
| HP:0011963 | Pretesticular azoospermia |
| HP:0011962 | Obstructive azoospermia |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0000027 | Azoospermia |
| HP:0011960 | Substantia nigra gliosis |
| HP:0011969 | Elevated circulating luteinizing hormone level |
| HP:0011967 | Decreased circulating copper concentration |
| http://purl.obolibrary.org/obo/GO_0001944 | vasculature development |
| HP:0008314 | Decreased activity of mitochondrial complex II |
| HP:0011966 | Elevated plasma citrulline |
| HP:0008311 | Spinal cord posterior columns myelin loss |
| HP:0011964 | Intermittent painful muscle spasms |
| HP:0008318 | Elevated leukocyte alkaline phosphatase |
| http://purl.obolibrary.org/obo/GO_0060266 | negative regulation of respiratory burst involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0060268 | negative regulation of respiratory burst |
| HP:0008315 | Decreased plasma free carnitine |
| http://purl.obolibrary.org/obo/GO_0060265 | positive regulation of respiratory burst involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0060267 | positive regulation of respiratory burst |
| http://purl.obolibrary.org/obo/GO_0060264 | regulation of respiratory burst involved in inflammatory response |
| HP:0008316 | Abnormal mitochondria in muscle tissue |
| http://purl.obolibrary.org/obo/GO_0060263 | regulation of respiratory burst |
| HP:0011974 | Myelofibrosis |
| HP:0011973 | Paroxysmal lethargy |
| HP:0011972 | Hypoglycorrhachia |
| HP:0011971 | Dermatographic urticaria |
| http://purl.obolibrary.org/obo/PR_P50283 | T-cell antigen CD7 (mouse) |
| HP:0011970 | Cerebral amyloid angiopathy |
| HP:0008320 | Impaired collagen-induced platelet aggregation |
| HP:0008321 | Reduced factor X activity |
| HP:0011979 | Elevated urinary dopamine |
| HP:0011978 | Elevated urinary vanillylmandelic acid |
| HP:0011977 | Elevated urinary homovanillic acid |
| HP:0011975 | Aminoglycoside-induced hearing loss |
| http://purl.obolibrary.org/obo/UBERON_0009117 | indifferent gonad |
| HP:0008326 | Reduced circulating vitamin B6 level |
| HP:0008327 | Microscopic nephrocalcinosis |
| HP:0000121 | Nephrocalcinosis |
| http://purl.obolibrary.org/obo/UBERON_0009115 | thoracic thymus |
| http://purl.obolibrary.org/obo/UBERON_0009114 | cervical thymus |
| http://purl.obolibrary.org/obo/GO_0060271 | cilium assembly |
| HP:0011985 | Acholic stools |
| HP:0011984 | Atretic gallbladder |
| HP:0011983 | Brown pigment gallstones |
| HP:0011982 | Black pigment gallstones |
| HP:0011981 | Pigment gallstones |
| HP:0011980 | Cholesterol gallstones |
| HP:0008331 | Elevated creatine kinase after exercise |
| http://purl.obolibrary.org/obo/GO_0001961 | positive regulation of cytokine-mediated signaling pathway |
| http://purl.obolibrary.org/obo/UBERON_0009122 | adenohypophyseal placode |
| http://purl.obolibrary.org/obo/GO_0001960 | negative regulation of cytokine-mediated signaling pathway |
| HP:0008330 | Reduced von Willebrand factor activity |
| HP:0008335 | Renal aminoaciduria |
| HP:0011989 | Ectopic ossification in ligament tissue |
| HP:0008336 | Complex organic aciduria |
| HP:0011988 | Ectopic ossification in tendon tissue |
| HP:0011987 | Ectopic ossification in muscle tissue |
| http://purl.obolibrary.org/obo/GO_0001964 | startle response |
| HP:0008338 | Partial functional complement factor D deficiency |
| http://purl.obolibrary.org/obo/UBERON_0009129 | right atrium endocardium |
| http://purl.obolibrary.org/obo/UBERON_0009124 | geniculate placode |
| http://purl.obolibrary.org/obo/CHEBI_59740 | nucleophilic reagent |
| http://purl.obolibrary.org/obo/CHEBI_39144 | Lewis base |
| http://purl.obolibrary.org/obo/UBERON_0009126 | nodosal placode |
| http://purl.obolibrary.org/obo/UBERON_0009125 | petrosal placode |
| http://purl.obolibrary.org/obo/UBERON_0003078 | epibranchial placode |
| http://purl.obolibrary.org/obo/CHEBI_47778 | glyceride |
| http://purl.obolibrary.org/obo/CHEBI_35741 | glycerolipid |
| http://purl.obolibrary.org/obo/CHEBI_47775 | high-density lipoprotein cholesterol |
| HP:0011996 | Elevated coagulation factor V activity |
| HP:0011995 | Atrial septal dilatation |
| http://purl.obolibrary.org/obo/CHEBI_47774 | low-density lipoprotein cholesterol |
| http://purl.obolibrary.org/obo/CHEBI_47773 | very-low-density lipoprotein cholesterol |
| http://purl.obolibrary.org/obo/UBERON_0009133 | pleuroperitoneal membrane |
| HP:0008341 | Distal renal tubular acidosis |
| http://purl.obolibrary.org/obo/UBERON_0010129 | femur cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0009132 | peroneus |
| HP:0008346 | Increased red cell sickling tendency |
| HP:0011999 | Paranoia |
| HP:0000746 | Delusions |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0008344 | Elevated plasma branched chain amino acids |
| HP:0011998 | Postprandial hyperglycemia |
| HP:0008345 | Hypoplasia of the iris dilator muscle |
| HP:0011997 | Postprandial hyperlactemia |
| http://purl.obolibrary.org/obo/UBERON_0009139 | right posterior cardinal vein |
| http://purl.obolibrary.org/obo/GO_0001959 | regulation of cytokine-mediated signaling pathway |
| http://purl.obolibrary.org/obo/UBERON_0010123 | future facial nucleus |
| http://purl.obolibrary.org/obo/GO_0001958 | endochondral ossification |
| HP:0008348 | Decreased circulating IgG2 level |
| http://purl.obolibrary.org/obo/GO_0098869 | cellular oxidant detoxification |
| http://purl.obolibrary.org/obo/UBERON_0010125 | future superior salivatory nucleus |
| HP:0008398 | Hypoplastic fifth fingernail |
| HP:0008396 | Chronic monilial nail infection |
| HP:0008399 | Circumungual hyperkeratosis |
| http://www.informatics.jax.org/marker/MGI:98822 | Tfrc (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_35718 | antifungal agent |
| http://purl.obolibrary.org/obo/CHEBI_35703 | xenobiotic |
| http://purl.obolibrary.org/obo/PR_P15702 | leukosialin (mouse) |
| http://purl.obolibrary.org/obo/GO_0050839 | cell adhesion molecule binding |
| http://purl.obolibrary.org/obo/PR_Q9BZW8 | natural killer cell receptor 2B4 (human) |
| http://purl.obolibrary.org/obo/GO_0050802 | circadian sleep/wake cycle, sleep |
| http://purl.obolibrary.org/obo/GO_0106016 | positive regulation of inflammatory response to wounding |
| http://purl.obolibrary.org/obo/GO_0106015 | negative regulation of inflammatory response to wounding |
| http://purl.obolibrary.org/obo/GO_0106014 | regulation of inflammatory response to wounding |
| http://www.informatics.jax.org/marker/MGI:106664 | Cd93 (mouse) |
| http://purl.obolibrary.org/obo/GO_0035265 | organ growth |
| http://www.informatics.jax.org/marker/MGI:106675 | Adipoq (mouse) |
| http://purl.obolibrary.org/obo/GO_0035282 | segmentation |
| http://purl.obolibrary.org/obo/GO_0003002 | regionalization |
| http://www.informatics.jax.org/marker/MGI:98659 | Dntt (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0010092 | future metencephalon |
| http://purl.obolibrary.org/obo/UBERON_0010091 | future hindbrain meninx |
| http://purl.obolibrary.org/obo/UBERON_0007645 | future meninx |
| http://purl.obolibrary.org/obo/UBERON_0010096 | future myelencephalon |
| http://purl.obolibrary.org/obo/GO_1900016 | negative regulation of cytokine production involved in inflammatory response |
| http://purl.obolibrary.org/obo/UBERON_0010090 | future falx cerebri |
| http://purl.obolibrary.org/obo/GO_1900017 | positive regulation of cytokine production involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_1900015 | regulation of cytokine production involved in inflammatory response |
| HP:0008511 | Central posterior corneal opacity |
| HP:0008513 | Bilateral conductive hearing impairment |
| HP:0008523 | Posterior helix pit |
| http://purl.obolibrary.org/obo/GO_0098800 | inner mitochondrial membrane protein complex |
| HP:0008527 | Congenital sensorineural hearing impairment |
| http://purl.obolibrary.org/obo/GO_0098803 | respiratory chain complex |
| http://purl.obolibrary.org/obo/GO_0098805 | whole membrane |
| HP:0008528 | Long hairs growing from helix of pinna |
| HP:0008529 | Absence of acoustic reflex |
| http://purl.obolibrary.org/obo/PATO_0015001 | absence due to degeneration |
| http://purl.obolibrary.org/obo/GO_0050892 | intestinal absorption |
| http://purl.obolibrary.org/obo/GO_0050890 | cognition |
| HP:0008537 | Cleft at the superior portion of the pinna |
| http://purl.obolibrary.org/obo/GO_0050886 | endocrine process |
| http://purl.obolibrary.org/obo/GO_0050884 | neuromuscular process controlling posture |
| http://purl.obolibrary.org/obo/GO_0050905 | neuromuscular process |
| HP:0008541 | Superiorly displaced ears |
| HP:0008542 | Low-frequency hearing loss |
| http://purl.obolibrary.org/obo/PATO_0015007 | prominence |
| http://purl.obolibrary.org/obo/UBERON_0010054 | malleus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010052 | mucosa of dorsum of tongue |
| http://purl.obolibrary.org/obo/PATO_0040031 | increased width and length |
| http://purl.obolibrary.org/obo/PATO_0040030 | decreased width and length |
| http://purl.obolibrary.org/obo/UBERON_0010056 | future tongue |
| http://purl.obolibrary.org/obo/UBERON_0010055 | stapes cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010059 | hypoglossal cord |
| http://purl.obolibrary.org/obo/UBERON_0010061 | lumen of nasopharynx |
| http://purl.obolibrary.org/obo/UBERON_0010060 | pharyngeal opening of pharyngotympanic tube |
| http://purl.obolibrary.org/obo/UBERON_0010065 | auditory meatus epithelium |
| http://purl.obolibrary.org/obo/UBERON_0010063 | tympanic cavity epithelium |
| http://purl.obolibrary.org/obo/UBERON_0010062 | pharyngotympanic tube epithelium |
| http://purl.obolibrary.org/obo/CHEBI_84690 | alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1')-Cer(d18:1/18:0) |
| http://purl.obolibrary.org/obo/UBERON_0010069 | outer epithelial layer of tympanic membrane |
| http://purl.obolibrary.org/obo/UBERON_0009647 | tympanic membrane epithelium |
| http://purl.obolibrary.org/obo/UBERON_0010070 | intermediate layer of tympanic membrane |
| http://purl.obolibrary.org/obo/UBERON_0010071 | layer of tympanic membrane |
| http://purl.obolibrary.org/obo/UBERON_0010076 | network of trabecular spaces in bone tissue |
| http://purl.obolibrary.org/obo/UBERON_0010075 | sacral neural crest |
| http://purl.obolibrary.org/obo/UBERON_0010074 | chromaffin system |
| http://purl.obolibrary.org/obo/PATO_0040019 | fibrotic |
| http://purl.obolibrary.org/obo/UBERON_0010083 | future dermis |
| http://purl.obolibrary.org/obo/UBERON_0010081 | future common hepatic duct |
| http://purl.obolibrary.org/obo/UBERON_0010084 | future diaphragm |
| http://purl.obolibrary.org/obo/UBERON_0009098 | gravid uterus |
| http://purl.obolibrary.org/obo/UBERON_0000995 | uterus |
| http://purl.obolibrary.org/obo/UBERON_0009097 | gravid organism |
| http://purl.obolibrary.org/obo/UBERON_0007023 | adult organism |
| HP:0008501 | Median cleft lip and palate |
| HP:0000161 | Median cleft lip |
| HP:0009099 | Median cleft palate |
| HP:0008504 | Moderate sensorineural hearing impairment |
| HP:0012713 | Moderate hearing impairment |
| HP:0008509 | Aged leonine appearance |
| HP:0008507 | Static ophthalmoparesis |
| HP:0008482 | Asymmetry of spinal facet joints |
| HP:0008480 | Cervical spondylosis |
| HP:0008475 | Hypoplastic sacral vertebrae |
| HP:0008472 | Prominent protruding coccyx |
| HP:0008478 | Scheuermann-like vertebral changes |
| HP:0008476 | Irregular sclerotic endplates |
| HP:0008477 | Poorly ossified cervical vertebrae |
| HP:0100856 | Poorly ossified vertebrae |
| http://purl.obolibrary.org/obo/CHEBI_35610 | antineoplastic agent |
| http://purl.obolibrary.org/obo/UBERON_0010011 | collection of basal ganglia |
| http://purl.obolibrary.org/obo/UBERON_0010020 | tubotympanic recess epithelium |
| HP:0008491 | Premature anterior fontanel closure |
| http://purl.obolibrary.org/obo/UBERON_0009032 | right pulmonary vein |
| HP:0008486 | Lumbar interpedicular narrowing |
| HP:0008483 | Cervical vertebral bodies with decreased anteroposterior diameter |
| HP:0008484 | Thoracolumbar interpediculate narrowness |
| HP:0008489 | Spondylolisthesis at L5-S1 |
| http://purl.obolibrary.org/obo/UBERON_0009030 | left pulmonary vein |
| HP:0008488 | Anterior rounding of vertebral bodies |
| http://purl.obolibrary.org/obo/UBERON_0009039 | lymph node germinal center |
| http://purl.obolibrary.org/obo/CHEBI_4167 | D-glucopyranose |
| http://purl.obolibrary.org/obo/CHEBI_17634 | D-glucose |
| http://purl.obolibrary.org/obo/UBERON_0010032 | anterior part of tongue |
| http://purl.obolibrary.org/obo/UBERON_0010031 | 6th arch mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0009042 | prostatic venous plexus |
| HP:0008497 | Congenital craniofacial dysostosis |
| HP:0008494 | Inferior lens subluxation |
| HP:0008498 | No permanent dentition |
| http://purl.obolibrary.org/obo/UBERON_0010033 | posterior part of tongue |
| http://purl.obolibrary.org/obo/UBERON_0010039 | food storage organ |
| http://purl.obolibrary.org/obo/CHEBI_35623 | anticonvulsant |
| http://purl.obolibrary.org/obo/UBERON_0010046 | entire pharyngeal arch associated mesenchyme |
| http://purl.obolibrary.org/obo/CHEBI_35620 | vasodilator agent |
| http://purl.obolibrary.org/obo/UBERON_0010045 | 1st arch maxillary mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010042 | 1st arch mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0009494 | pharyngeal arch mesenchymal region |
| http://purl.obolibrary.org/obo/CHEBI_35621 | alpha-aminobutyric acid |
| http://purl.obolibrary.org/obo/GO_0060173 | limb development |
| HP:0008434 | Hypoplastic cervical vertebrae |
| HP:0008435 | Absent in utero ossification of vertebral bodies |
| HP:0008432 | Anterior wedging of L1 |
| HP:0008433 | Reversed usual vertebral column curves |
| HP:0008439 | Lumbar hemivertebrae |
| HP:0008436 | Absent/hypoplastic coccyx |
| HP:0008437 | Bifid thoracic vertebrae |
| HP:0008441 | Herniation of intervertebral nuclei |
| HP:0008442 | Vertebral hyperostosis |
| HP:0008445 | Cervical spinal canal stenosis |
| HP:0008443 | Spinal deformities |
| HP:0008444 | Posterior wedging of vertebral bodies |
| HP:0008449 | Progressive cervical vertebral spine fusion |
| HP:0008447 | Hypoplastic coccygeal vertebrae |
| http://purl.obolibrary.org/obo/UBERON_0012650 | gastroduodenal junction |
| HP:0008460 | Hypoplastic spinal processes |
| HP:0008452 | Wafer-thin platyspondyly |
| http://purl.obolibrary.org/obo/GO_0001841 | neural tube formation |
| HP:0008453 | Congenital kyphoscoliosis |
| HP:0008451 | Posterior vertebral hypoplasia |
| http://purl.obolibrary.org/obo/PR_P52787 | cobalamin binding intrinsic factor (mouse) |
| HP:0008456 | C2-C3 subluxation |
| http://purl.obolibrary.org/obo/CHEBI_33017 | diphosphate(1-) |
| HP:0008457 | Caudal interpedicular narrowing |
| http://purl.obolibrary.org/obo/CHEBI_33019 | diphosphate(3-) |
| http://purl.obolibrary.org/obo/GO_0001843 | neural tube closure |
| HP:0008455 | Dysplastic sacrum |
| http://purl.obolibrary.org/obo/GO_0060125 | negative regulation of growth hormone secretion |
| http://purl.obolibrary.org/obo/GO_0060124 | positive regulation of growth hormone secretion |
| http://purl.obolibrary.org/obo/GO_0060123 | regulation of growth hormone secretion |
| http://purl.obolibrary.org/obo/UBERON_0012651 | mucosa of gastroduodenal junction |
| HP:0008458 | Progressive congenital scoliosis |
| HP:0008459 | Cervical vertebral agenesis |
| http://purl.obolibrary.org/obo/UBERON_0009002 | placental membrane |
| HP:0008470 | Lower thoracic interpediculate narrowness |
| HP:0008450 | Narrow vertebral interpedicular distance |
| http://purl.obolibrary.org/obo/UBERON_0009010 | periurethral tissue |
| HP:0008463 | Central vertebral hypoplasia |
| HP:0008464 | Absent spinous processes of lower thoracic and lumbar vertebrae |
| HP:0008516 | Abnormality of the vertebral spinous processes |
| HP:0008461 | Cervical vertebral facet hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0010009 | aggregate regional part of brain |
| http://purl.obolibrary.org/obo/UBERON_0034923 | disconnected anatomical group |
| HP:0008462 | Cervical instability |
| HP:0008467 | Thoracic hemivertebrae |
| HP:0008468 | Abnormal sacral segmentation |
| http://purl.obolibrary.org/obo/GO_0060136 | embryonic process involved in female pregnancy |
| http://purl.obolibrary.org/obo/CHEBI_35664 | EC 1.1.1.34/EC 1.1.1.88 (hydroxymethylglutaryl-CoA reductase) inhibitor |
| HP:0008469 | Cervical vertebral dysplasia |
| http://purl.obolibrary.org/obo/UBERON_0009014 | lower back skin |
| http://purl.obolibrary.org/obo/UBERON_0010005 | placental labyrinth villous |
| http://purl.obolibrary.org/obo/UBERON_0009015 | upper back skin |
| http://purl.obolibrary.org/obo/PR_000027393 | PR:000027393 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P11215 | integrin alpha-M (human) |
| http://purl.obolibrary.org/obo/UBERON_0012615 | umbilical smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0000642 | suspensory ligament of duodenum |
| http://purl.obolibrary.org/obo/GO_0106064 | regulation of cobalamin metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_84981 | 2-aminoadipate(2-) |
| http://purl.obolibrary.org/obo/PR_000025180 | glucose-6-phosphate isomerase unmodified form |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1694 | CD69 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1693 | CD68 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1695 | CD7 (human) |
| HP:0008633 | Agonadism |
| HP:0008631 | Ureteral dysgenesis |
| HP:0008636 | Lobular glomerulopathy |
| HP:0008635 | Hypertrophy of the urinary bladder |
| http://purl.obolibrary.org/obo/GO_1900121 | negative regulation of receptor binding |
| http://purl.obolibrary.org/obo/GO_1900122 | positive regulation of receptor binding |
| http://purl.obolibrary.org/obo/GO_1900120 | regulation of receptor binding |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1683 | CD48 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1685 | CD5 (human) |
| HP:0008640 | Congenital macroorchidism |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1681 | CD44 (human) |
| HP:0008647 | Pubertal developmental failure in females |
| HP:0008648 | Anteriorly displaced urethral meatus |
| http://purl.obolibrary.org/obo/GO_0060591 | chondroblast differentiation |
| http://purl.obolibrary.org/obo/CHEBI_33384 | L-serine zwitterion |
| http://purl.obolibrary.org/obo/GO_1900118 | negative regulation of execution phase of apoptosis |
| http://purl.obolibrary.org/obo/GO_1900119 | positive regulation of execution phase of apoptosis |
| http://purl.obolibrary.org/obo/GO_1900116 | extracellular negative regulation of signal transduction |
| http://purl.obolibrary.org/obo/GO_1900115 | extracellular regulation of signal transduction |
| http://purl.obolibrary.org/obo/GO_1900117 | regulation of execution phase of apoptosis |
| HP:0008651 | Uric acid urolithiasis independent of gout |
| HP:0000791 | Uric acid nephrolithiasis |
| HP:0008652 | Autonomic erectile dysfunction |
| HP:0100639 | Erectile dysfunction |
| HP:0008653 | Crescentic glomerulonephritis |
| HP:0000099 | Glomerulonephritis |
| HP:0000123 | Nephritis |
| HP:0008659 | Multiple small medullary renal cysts |
| HP:0008656 | Incomplete male pseudohermaphroditism |
| HP:0000037 | Male pseudohermaphroditism |
| http://purl.obolibrary.org/obo/GO_0060562 | epithelial tube morphogenesis |
| http://purl.obolibrary.org/obo/GO_0060560 | developmental growth involved in morphogenesis |
| HP:0008660 | Renotubular dysgenesis |
| HP:0008665 | Clitoral hypertrophy |
| HP:0008666 | Impaired histidine renal tubular absorption |
| HP:0008663 | Renal sarcoma |
| HP:0008664 | Urethral sphincter sclerosis |
| HP:0006008 | Unilateral brachydactyly |
| HP:0006006 | Hypotrophy of the small hand muscles |
| HP:0008668 | Gonadal dysgenesis, male |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1659 | CD33 (human) |
| http://purl.obolibrary.org/obo/GO_0060547 | negative regulation of necrotic cell death |
| http://purl.obolibrary.org/obo/GO_0060541 | respiratory system development |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1645 | CD24 (human) |
| HP:0008607 | Progressive conductive hearing impairment |
| HP:0008608 | Hypertrophic auricular cartilage |
| HP:0008605 | Unilateral external ear deformity |
| HP:0008606 | Supraauricular pit |
| http://purl.obolibrary.org/obo/GO_0035556 | intracellular signal transduction |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1678 | CD4 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1674 | CD3E (human) |
| HP:0008610 | Infantile sensorineural hearing impairment |
| HP:0008615 | Adult onset sensorineural hearing impairment |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1667 | CD38 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1662 | CD34 (human) |
| HP:0008625 | Severe sensorineural hearing impairment |
| HP:0012714 | Severe hearing impairment |
| HP:0008629 | Pulsatile tinnitus |
| HP:0000360 | Tinnitus |
| HP:0008596 | Postlingual sensorineural hearing impairment |
| HP:0008593 | Prominent antitragus |
| HP:0008598 | Mild conductive hearing impairment |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1608 | CCR7 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1603 | CCR2 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1602 | CCR1 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1604 | CCR3 (human) |
| http://purl.obolibrary.org/obo/CHEBI_23981 | ethanolamines |
| http://purl.obolibrary.org/obo/CHEBI_33306 | carbon group element atom |
| http://purl.obolibrary.org/obo/CHEBI_60924 | keratan sulfate |
| http://purl.obolibrary.org/obo/GO_1900074 | negative regulation of neuromuscular synaptic transmission |
| http://purl.obolibrary.org/obo/GO_0050805 | negative regulation of synaptic transmission |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1639 | CD2 (human) |
| http://purl.obolibrary.org/obo/GO_1900075 | positive regulation of neuromuscular synaptic transmission |
| http://purl.obolibrary.org/obo/GO_0050806 | positive regulation of synaptic transmission |
| http://purl.obolibrary.org/obo/GO_1900073 | regulation of neuromuscular synaptic transmission |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1633 | CD19 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1628 | CD14 (human) |
| http://purl.obolibrary.org/obo/CHEBI_35987 | diamino acid |
| HP:0008555 | Absent vestibular function |
| http://purl.obolibrary.org/obo/CHEBI_33358 | cobalt group element atom |
| http://purl.obolibrary.org/obo/CHEBI_57305 | glycine zwitterion |
| HP:0008559 | Hypoplastic superior helix |
| HP:0008568 | Vestibular areflexia |
| HP:0008569 | Microtia, second degree |
| http://purl.obolibrary.org/obo/CHEBI_33340 | zinc group element atom |
| HP:0008573 | Low-frequency sensorineural hearing impairment |
| HP:0008572 | External ear malformation |
| http://purl.obolibrary.org/obo/PR_P25063 | signal transducer CD24 (human) |
| HP:0008591 | Congenital conductive hearing impairment |
| HP:0008583 | Underfolded superior helices |
| HP:0008577 | Underfolded helix |
| HP:0008588 | Slit-like opening of the exterior auditory meatus |
| HP:0008589 | Hypoplastic helices |
| HP:0008586 | Hypoplasia of the cochlea |
| HP:0008587 | Mild neurosensory hearing impairment |
| HP:0012712 | Mild hearing impairment |
| http://purl.obolibrary.org/obo/GO_0060495 | cell-cell signaling involved in lung development |
| http://purl.obolibrary.org/obo/CHEBI_11955 | 4-amino-3-hydroxybutanoate |
| http://purl.obolibrary.org/obo/CHEBI_35907 | glutarate(1-) |
| http://purl.obolibrary.org/obo/CHEBI_35915 | sterol ester |
| http://purl.obolibrary.org/obo/CHEBI_35910 | 2-oxo monocarboxylic acid |
| http://purl.obolibrary.org/obo/PR_000050060 | glucose-6-phosphate dehydrogenase |
| http://purl.obolibrary.org/obo/UBERON_0012504 | adventitia of esophagus |
| http://purl.obolibrary.org/obo/CHEBI_35931 | delta-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_59905 | dopaminium(1+) |
| http://purl.obolibrary.org/obo/CHEBI_35950 | 4-oxo monocarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_23966 | estrane |
| http://purl.obolibrary.org/obo/CHEBI_23965 | estradiol |
| HP:0008708 | Partial development of the penile shaft |
| HP:0008702 | Absent internal genitalia |
| HP:0008703 | Gonadal calcification |
| HP:0008706 | Distal urethral duplication |
| HP:0008707 | Absent scrotum |
| HP:0008705 | Ureteral triplication |
| http://zfin.org/action/marker/view/ZDB-GENE-980526-501 | tal1 (zebrafish) |
| http://purl.obolibrary.org/obo/PR_000049040 | PR:000049040 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/CHEBI_133294 | oxo dicarboxylic acid dianion |
| http://purl.obolibrary.org/obo/CHEBI_133291 | saturated dicarboxylic acid dianion(2-) |
| HP:0008750 | Laryngeal atresia |
| HP:0008753 | Aplasia of the epiglottis |
| HP:0008754 | Laryngeal calcification |
| http://purl.obolibrary.org/obo/GO_0060467 | negative regulation of fertilization |
| HP:0008751 | Laryngeal cleft |
| HP:0008752 | Laryngeal cartilage malformation |
| HP:0008757 | Unilateral vocal cord paralysis |
| http://purl.obolibrary.org/obo/GO_0060464 | lung lobe formation |
| http://purl.obolibrary.org/obo/CHEBI_59888 | gamma-aminobutyric acid zwitterion |
| HP:0008755 | Laryngotracheomalacia |
| HP:0002779 | Tracheomalacia |
| http://purl.obolibrary.org/obo/GO_0060463 | lung lobe morphogenesis |
| http://purl.obolibrary.org/obo/GO_0060462 | lung lobe development |
| HP:0008756 | Bowing of the vocal cords |
| HP:0008760 | Violent behavior |
| HP:0000718 | Aggressive behavior |
| HP:0008765 | Auditory hallucinations |
| HP:0008762 | Repetitive compulsive behavior |
| HP:0008763 | No social interaction |
| HP:0006107 | Fingerpad telangiectases |
| HP:0006106 | Absent trapezoid bone |
| http://purl.obolibrary.org/obo/GO_0060474 | positive regulation of flagellated sperm motility involved in capacitation |
| HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements |
| HP:0000742 | Self-mutilation |
| HP:0100716 | Self-injurious behavior |
| http://www.informatics.jax.org/marker/MGI:98480 | Tal1 (mouse) |
| HP:0006108 | Tapered metacarpals |
| http://purl.obolibrary.org/obo/CHEBI_33263 | diatomic oxygen |
| http://purl.obolibrary.org/obo/CHEBI_33262 | elemental oxygen |
| http://purl.obolibrary.org/obo/CHEBI_33290 | food |
| http://purl.obolibrary.org/obo/CHEBI_33292 | fuel |
| HP:0006110 | Shortening of all middle phalanges of the fingers |
| HP:0008770 | Obsessive-compulsive trait |
| HP:0006114 | Multiple palmar creases |
| http://purl.obolibrary.org/obo/CHEBI_133251 | 3-hydroxydicarboxylate(2-) |
| HP:0008773 | Aplasia/Hypoplasia of the middle ear |
| HP:0006112 | Expanded phalanges with widened medullary cavities |
| HP:0006118 | Shortening of all distal phalanges of the fingers |
| http://purl.obolibrary.org/obo/CHEBI_60895 | D-alpha-amino acid anion |
| http://purl.obolibrary.org/obo/CHEBI_33295 | diagnostic agent |
| http://purl.obolibrary.org/obo/CHEBI_33282 | antibacterial agent |
| HP:0006121 | Acral ulceration |
| HP:0008783 | Wide proximal femoral metaphysis |
| HP:0008780 | Congenital bilateral hip dislocation |
| HP:0008786 | Iliac crest serration |
| HP:0008784 | Wide capital femoral epiphyses |
| HP:0008785 | Delayed ossification of pubic rami |
| HP:0006129 | Drumstick terminal phalanges |
| http://purl.obolibrary.org/obo/CHEBI_33287 | fertilizer |
| http://purl.obolibrary.org/obo/GO_0060452 | positive regulation of cardiac muscle contraction |
| HP:0008788 | Delayed pubic bone ossification |
| HP:0006127 | Long proximal phalanx of finger |
| HP:0008789 | Cone-shaped capital femoral epiphysis |
| http://purl.obolibrary.org/obo/CHEBI_33286 | agrochemical |
| http://purl.obolibrary.org/obo/GO_0060425 | lung morphogenesis |
| http://purl.obolibrary.org/obo/UBERON_0012477 | dorsal part of neck |
| http://purl.obolibrary.org/obo/UBERON_0005434 | cervical region |
| http://purl.obolibrary.org/obo/UBERON_0012478 | cloacal gland |
| HP:0008714 | Ureterovesical stenosis |
| HP:0000071 | Ureteral stenosis |
| http://purl.obolibrary.org/obo/UBERON_0012475 | skeleton of pectoral complex |
| HP:0008711 | Benign prostatic hyperplasia |
| http://purl.obolibrary.org/obo/UBERON_0012476 | skeleton of pelvic complex |
| HP:0008717 | Unilateral renal atrophy |
| HP:0008718 | Unilateral renal dysplasia |
| HP:0000110 | Renal dysplasia |
| HP:0008715 | Testicular dysgenesis |
| HP:0008716 | Urethrovaginal fistula |
| http://purl.obolibrary.org/obo/UBERON_0012480 | cloacal mucosa |
| http://purl.obolibrary.org/obo/PR_P27548 | CD40 ligand (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0012485 | cloacal villus |
| http://purl.obolibrary.org/obo/UBERON_0012482 | submucosa of cloaca |
| http://purl.obolibrary.org/obo/UBERON_0012483 | serosa of cloaca |
| HP:0008720 | Primary testicular failure |
| http://purl.obolibrary.org/obo/UBERON_0012488 | muscle layer of duodenum |
| HP:0008724 | Hypoplasia of the ovary |
| HP:0010462 | Aplasia/Hypoplasia of the ovary |
| HP:0008639 | Gonadal hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0012486 | muscle layer of cloaca |
| HP:0008722 | Urethral diverticulum |
| http://purl.obolibrary.org/obo/UBERON_0012487 | vaginal sphincter |
| HP:0008723 | Gonadal dysgenesis with female appearance, male |
| HP:0000133 | Gonadal dysgenesis |
| HP:0008729 | Absence of labia majora |
| HP:0008726 | Hypoplasia of the vagina |
| http://purl.obolibrary.org/obo/UBERON_0012490 | muscle layer of anal canal |
| http://purl.obolibrary.org/obo/GO_1902850 | microtubule cytoskeleton organization involved in mitosis |
| http://purl.obolibrary.org/obo/GO_0060407 | negative regulation of penile erection |
| http://purl.obolibrary.org/obo/GO_0060406 | positive regulation of penile erection |
| http://purl.obolibrary.org/obo/GO_0060405 | regulation of penile erection |
| HP:0008732 | Renal hypophosphatemia |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype |
| http://purl.obolibrary.org/obo/UBERON_0012499 | serosa of uterine tube |
| HP:0008733 | Dysplastic testes |
| HP:0008734 | Decreased testicular size |
| HP:0008739 | Labial pseudohypertrophy |
| http://purl.obolibrary.org/obo/CHEBI_305790 | thyroxine zwitterion |
| HP:0008738 | Partially duplicated kidney |
| HP:0008742 | Prominent prostate median bar |
| HP:0008743 | Coronal hypospadias |
| HP:0008740 | Longitudinal vaginal septum |
| HP:0008747 | Cartilaginous ossification of larynx |
| HP:0008744 | Abnormal aryepiglottic fold morphology |
| HP:0008749 | Laryngeal hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0012430 | tunica fibrosa of eyeball |
| http://purl.obolibrary.org/obo/UBERON_0000454 | cerebral subcortex |
| http://purl.obolibrary.org/obo/UBERON_0000457 | cavernous artery |
| HP:0006060 | Tombstone-shaped proximal phalanges |
| http://purl.obolibrary.org/obo/UBERON_0000459 | uterine wall |
| http://purl.obolibrary.org/obo/UBERON_0000458 | endocervix |
| HP:0006055 | Ulnar deviated club hands |
| HP:0009487 | Ulnar deviation of the hand |
| HP:0006059 | Cone-shaped metacarpal epiphyses |
| http://purl.obolibrary.org/obo/UBERON_0012437 | epithelial-mesenchymal boundary |
| HP:0006070 | Metacarpophalangeal joint contracture |
| HP:0006064 | Limited interphalangeal movement |
| HP:0006069 | Severe carpal ossification delay |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1516 | CAT (human) |
| http://purl.obolibrary.org/obo/UBERON_0000474 | female reproductive system |
| HP:0006077 | Absent proximal finger flexion creases |
| http://purl.obolibrary.org/obo/CHEBI_59826 | progestin |
| http://purl.obolibrary.org/obo/CHEBI_35871 | oxo monocarboxylic acid |
| http://purl.obolibrary.org/obo/UBERON_0012463 | cloacal lumen |
| http://purl.obolibrary.org/obo/CHEBI_47857 | ureas |
| HP:0006095 | Wide tufts of distal phalanges |
| HP:0006092 | Malaligned carpal bone |
| HP:0006088 | 1-5 finger complete cutaneous syndactyly |
| HP:0006086 | Thin metacarpal cortices |
| http://purl.obolibrary.org/obo/UBERON_0012466 | extraembryonic cavity |
| http://purl.obolibrary.org/obo/UBERON_0012464 | cloacal vent |
| http://purl.obolibrary.org/obo/UBERON_0012465 | lumen of terminal part of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0012468 | anal tooth |
| http://purl.obolibrary.org/obo/UBERON_0012469 | external anal region |
| HP:0031033 | Impaired urinary acidification |
| HP:0031032 | Decreased retinol-binding protein level |
| HP:0031031 | Abnormal retinol-binding protein level |
| HP:0031030 | Elevated carcinoma antigen 125 level |
| HP:0031037 | Reduced insulin-like factor 3 level |
| HP:0031036 | Reduced growth-hormone binding protein level |
| http://purl.obolibrary.org/obo/CHEBI_47868 | photosensitizing agent |
| http://purl.obolibrary.org/obo/UBERON_0000410 | bronchial mucosa |
| http://purl.obolibrary.org/obo/UBERON_0000415 | artery wall |
| HP:0008672 | Calcium oxalate nephrolithiasis |
| HP:0006011 | Cuboidal metacarpal |
| HP:0008670 | Partial vaginal septum |
| HP:0008676 | Congenital megaureter |
| HP:0008677 | Congenital nephrotic syndrome |
| http://purl.obolibrary.org/obo/CHEBI_59845 | 3-hydroxy fatty acid |
| HP:0008675 | Enlarged polycystic ovaries |
| HP:0000147 | Polycystic ovaries |
| HP:0100879 | Enlarged ovaries |
| HP:0006012 | Widened metacarpal shaft |
| HP:0006019 | Reduced proximal interphalangeal joint space |
| HP:0031039 | Early spermatogenesis maturation arrest |
| HP:0006016 | Delayed phalangeal epiphyseal ossification |
| http://purl.obolibrary.org/obo/CHEBI_33234 | vitamin E |
| http://purl.obolibrary.org/obo/UBERON_0000428 | prostate epithelium |
| HP:0031022 | Oropharyngeal squamous papilloma |
| HP:0031021 | Squamous Papilloma |
| HP:0031020 | Bone marrow hypercellularity |
| http://purl.obolibrary.org/obo/UBERON_0000429 | enteric plexus |
| HP:0031026 | Snail-like ilia |
| HP:0031025 | Gastric leiomyosarcoma |
| HP:0031024 | Cylindroma |
| HP:0031023 | Multiple mucosal neuromas |
| http://purl.obolibrary.org/obo/CHEBI_45212 | diphosphate(2-) |
| HP:0008691 | Solitary bladder diverticulum |
| HP:0000015 | Bladder diverticulum |
| http://purl.obolibrary.org/obo/CHEBI_21241 | vitamin C |
| HP:0008683 | Enlarged labia minora |
| HP:0012880 | Abnormality of the labia minora |
| HP:0000065 | Labial hypertrophy |
| HP:0008684 | Aplasia/hypoplasia of the uterus |
| HP:0008682 | Renal tubular epithelial necrosis |
| HP:0008687 | Hypoplasia of the prostate |
| HP:0006026 | Rounded epiphyses |
| http://purl.obolibrary.org/obo/GO_0072377 | blood coagulation, common pathway |
| http://purl.obolibrary.org/obo/GO_0072378 | blood coagulation, fibrin clot formation |
| HP:0031029 | Elevated carcinoembryonic antigen level |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0000028 | Cryptorchidism |
| HP:0031028 | Lactescent serum |
| http://purl.obolibrary.org/obo/CHEBI_33224 | chromane |
| HP:0006028 | Metaphyseal cupping of metacarpals |
| HP:0031027 | Internal notch of the femoral head |
| HP:0031011 | Fatty streak |
| http://purl.obolibrary.org/obo/UBERON_0000439 | arachnoid trabecula |
| HP:0031010 | Hyperphalangy of the 3rd finger |
| HP:0031015 | Intrahepatic portal vein sclerosis |
| HP:0031014 | Arteria lusoria |
| HP:0031012 | Thin-cap fibroatheroma |
| http://purl.obolibrary.org/obo/GO_1900158 | negative regulation of bone mineralization involved in bone maturation |
| http://purl.obolibrary.org/obo/GO_0030502 | negative regulation of bone mineralization |
| http://purl.obolibrary.org/obo/GO_1903011 | negative regulation of bone development |
| http://purl.obolibrary.org/obo/GO_1900159 | positive regulation of bone mineralization involved in bone maturation |
| http://purl.obolibrary.org/obo/GO_0030501 | positive regulation of bone mineralization |
| http://purl.obolibrary.org/obo/GO_1903012 | positive regulation of bone development |
| http://purl.obolibrary.org/obo/GO_1900157 | regulation of bone mineralization involved in bone maturation |
| http://purl.obolibrary.org/obo/GO_0030500 | regulation of bone mineralization |
| http://purl.obolibrary.org/obo/GO_1903010 | regulation of bone development |
| HP:0006040 | Long second metacarpal |
| HP:0010036 | Aplasia/Hypoplasia of the 2nd metacarpal |
| HP:0010493 | Long metacarpals |
| http://purl.obolibrary.org/obo/CHEBI_47880 | steroid ester |
| HP:0008695 | Transient nephrotic syndrome |
| HP:0000100 | Nephrotic syndrome |
| http://purl.obolibrary.org/obo/UBERON_0012418 | respiratory system venous smooth muscle |
| HP:0006035 | Cone-shaped epiphyses of phalanges 2 to 5 |
| HP:0009412 | Cone-shaped epiphyses of the 3rd finger |
| HP:0009320 | Abnormality of the epiphyses of the 3rd finger |
| HP:0009395 | Cone-shaped epiphyses of the 4th finger |
| HP:0009174 | Abnormality of the epiphyses of the 4th finger |
| HP:0009490 | Cone-shaped epiphyses of the 2nd finger |
| HP:0008697 | Hypoplasia of the fallopian tube |
| HP:0031019 | Pyknotic bone marrow neutrophils |
| HP:0031018 | Eccrine syringofibroadenoma |
| HP:0031017 | Swiss cheese atrial septal defect |
| HP:0031016 | Alternating radiolucent and radiodense metaphyseal lines |
| http://purl.obolibrary.org/obo/UBERON_0012416 | respiratory system arterial smooth muscle |
| http://purl.obolibrary.org/obo/CHEBI_33253 | nucleon |
| http://purl.obolibrary.org/obo/CHEBI_33252 | atomic nucleus |
| HP:0031000 | Vestibular saccular degeneration |
| HP:0031004 | Hemiareflexia |
| HP:0031003 | Polyneuritis |
| HP:0031002 | Neuritis |
| HP:0031001 | Minifascicle formation |
| http://purl.obolibrary.org/obo/UBERON_0000442 | right testicular vein |
| http://purl.obolibrary.org/obo/UBERON_0000443 | left testicular vein |
| HP:0006051 | Metacarpal periosteal thickening |
| http://purl.obolibrary.org/obo/UBERON_0000446 | septum of telencephalon |
| http://purl.obolibrary.org/obo/GO_0072350 | tricarboxylic acid metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0012429 | hematopoietic tissue |
| HP:0006048 | Distal widening of metacarpals |
| HP:0006045 | Short pointed phalanges |
| http://purl.obolibrary.org/obo/CHEBI_59876 | N-acyl-D-alpha-amino acid anion |
| http://purl.obolibrary.org/obo/GO_0060377 | negative regulation of mast cell differentiation |
| HP:0031008 | Lingual dystonia |
| http://purl.obolibrary.org/obo/GO_0072358 | cardiovascular system development |
| http://purl.obolibrary.org/obo/GO_0060376 | positive regulation of mast cell differentiation |
| HP:0031007 | Orofacial action-specific dystonia induced by speech |
| HP:0012179 | Craniofacial dystonia |
| http://purl.obolibrary.org/obo/GO_0072359 | circulatory system development |
| http://purl.obolibrary.org/obo/GO_0060375 | regulation of mast cell differentiation |
| HP:0031006 | Acroparesthesia |
| http://purl.obolibrary.org/obo/GO_0060374 | mast cell differentiation |
| HP:0031005 | Hyperalgesia |
| http://purl.obolibrary.org/obo/UBERON_0012425 | striated border microvillus layer |
| http://purl.obolibrary.org/obo/UBERON_0012423 | layer of microvilli |
| HP:0031009 | Ainhum |
| HP:0031076 | Impaired cortisol response to insulin stimulation test |
| HP:0031074 | Abnormal response to ACTH stimulation test |
| HP:0031079 | Impaired growth-hormone response to insulin stimulation test |
| HP:0031075 | Abnormal response to insulin tolerance test |
| HP:0031078 | Impaired cortisol response to corticotropin releasing hormone stimulation test |
| HP:0031077 | Abnormal response to corticotropin releasing hormone stimulation test |
| HP:0031070 | Decreased femoral torsion |
| HP:0031063 | Impaired feeding ability |
| HP:0031068 | Increased femoral torsion |
| HP:0031069 | Abnormal femoral torsion |
| HP:0031067 | Empty ovarian follicle |
| HP:0031062 | Impaired transferring ability |
| HP:0031061 | Impaired toileting ability |
| HP:0031060 | Impaired ability to dress oneself |
| HP:0031054 | Long segment coarctation of the aorta |
| HP:0031053 | Coarctation in the transverse aortic arch |
| HP:0031052 | Elevated vascular endothelial growth factor level |
| HP:0031059 | Impaired ability to bathe oneself |
| HP:0031057 | Skin fissure |
| HP:0031056 | Fusiform cerebral aneurysm |
| http://www.informatics.jax.org/marker/MGI:1921496 | Gale (mouse) |
| HP:0031050 | Whole-immunoglobulin paraproteinemia |
| HP:0031044 | Type A5 brachydactyly |
| HP:0031043 | Type A4 brachydactyly |
| HP:0031042 | Strawberry tongue |
| HP:0031041 | Obstruction of the superior vena cava |
| HP:0031048 | Light-chain paraproteinemia |
| HP:0031046 | Absent soft palate |
| HP:0031045 | Acral blistering |
| http://purl.obolibrary.org/obo/UBERON_0000400 | jejunal epithelium |
| HP:0031040 | Late spermatogenesis maturation arrest |
| HP:0031038 | Spermatogenesis maturation arrest |
| http://purl.obolibrary.org/obo/UBERON_0000402 | nasal vestibule |
| http://purl.obolibrary.org/obo/UBERON_0000401 | mandibular ramus |
| http://purl.obolibrary.org/obo/UBERON_0000403 | scalp |
| http://purl.obolibrary.org/obo/CHEBI_35808 | citrate(2-) |
| HP:0006099 | Metacarpophalangeal joint hyperextensibility |
| http://purl.obolibrary.org/obo/CHEBI_35804 | citrate(1-) |
| HP:0031098 | Decreased thyroid-stimulating hormone level |
| HP:0031097 | Abnormal thyroid-stimulating hormone level |
| HP:0031096 | Delayed vertebral ossification |
| HP:0031091 | Toe dactylitis |
| HP:0031090 | Finger dactylitis |
| HP:0031092 | Spindle-shaped finger |
| HP:0031088 | Vaginal dryness |
| HP:0031087 | Absent pubertal growth spurt |
| HP:0031086 | Ectopic ovary |
| HP:0031085 | Decreased prealbumin level |
| HP:0031089 | Palatal edema |
| HP:0031084 | Excessive insulin response to glucagon test |
| HP:0031083 | Abnormal response to human chorionic gonadotrophin stimulation test |
| HP:0031082 | Impaired growth-hormone response to glucagon stimulation test |
| HP:0031081 | Impaired cortisol response to glucagon stimulation test |
| HP:0031080 | Abnormal response to glucagon stimulation test |
| http://purl.obolibrary.org/obo/CHEBI_35825 | mandelic acid |
| http://purl.obolibrary.org/obo/CHEBI_35821 | anticholesteremic drug |
| http://purl.obolibrary.org/obo/CHEBI_35679 | antilipemic drug |
| HP:0008807 | Acetabular dysplasia |
| HP:0008808 | High iliac wings |
| HP:0008801 | Hypoplasia of the lesser trochanter |
| HP:0008802 | Hypoplasia of the femoral head |
| HP:0009108 | Aplasia/Hypoplasia involving the femoral head and neck |
| http://purl.obolibrary.org/obo/GO_0045117 | azole transmembrane transport |
| HP:0008804 | Broad femoral head |
| HP:0008818 | Large iliac wings |
| HP:0008819 | Narrow femoral neck |
| HP:0008812 | Flattened femoral head |
| http://purl.obolibrary.org/obo/CHEBI_606565 | N-benzoylglycinate |
| http://purl.obolibrary.org/obo/CHEBI_606564 | prostaglandin E2(1-) |
| HP:0008817 | Aplastic pubic bones |
| HP:0008829 | Delayed femoral head ossification |
| http://www.informatics.jax.org/marker/MGI:96558 | Il5ra (mouse) |
| http://www.informatics.jax.org/marker/MGI:96562 | Il7r (mouse) |
| HP:0008820 | Absent ossification of capital femoral epiphysis |
| HP:0008823 | Hypoplastic inferior pubic rami |
| HP:0008824 | Hypoplastic iliac body |
| HP:0008821 | Hypoplastic inferior ilia |
| HP:0000946 | Hypoplastic ilia |
| HP:0008822 | Hypoplastic ischiopubic rami |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification |
| HP:0008826 | Dislocation of the femoral head |
| http://purl.obolibrary.org/obo/GO_0035735 | intraciliary transport involved in cilium assembly |
| HP:0006213 | Thin proximal phalanges with broad epiphyses of the hand |
| HP:0006210 | Postaxial oligodactyly |
| HP:0006217 | Limited mobility of proximal interphalangeal joint |
| HP:0006216 | Single interphalangeal crease of fifth finger |
| HP:0006224 | Tapering pointed ends of distal finger phalanges |
| HP:0008883 | Mild intrauterine growth retardation |
| HP:0006228 | Valgus hand deformity |
| HP:0006226 | Osteoarthritis of the first carpometacarpal joint |
| HP:0006230 | Unilateral oligodactyly |
| HP:0008890 | Severe short-limb dwarfism |
| HP:0006234 | Osteolysis involving tarsal bones |
| HP:0006233 | Osteoarthritis of the distal interphalangeal joint |
| HP:0006232 | Expanded metacarpals with widened medullary cavities |
| http://purl.obolibrary.org/obo/GO_0070125 | mitochondrial translational elongation |
| HP:0006239 | Shortening of all middle phalanges of the toes |
| HP:0006236 | Slender metacarpals |
| http://purl.obolibrary.org/obo/GO_0045182 | translation regulator activity |
| http://purl.obolibrary.org/obo/GO_0070130 | negative regulation of mitochondrial translation |
| http://purl.obolibrary.org/obo/GO_0070131 | positive regulation of mitochondrial translation |
| http://purl.obolibrary.org/obo/GO_0070129 | regulation of mitochondrial translation |
| http://purl.obolibrary.org/obo/GO_0062125 | regulation of mitochondrial gene expression |
| HP:0006243 | Phalangeal dislocation |
| http://purl.obolibrary.org/obo/UBERON_0012351 | urachal lumen |
| http://purl.obolibrary.org/obo/UBERON_0000376 | hindlimb stylopod |
| http://purl.obolibrary.org/obo/UBERON_0000375 | mandibular nerve |
| http://purl.obolibrary.org/obo/UBERON_0000377 | maxillary nerve |
| HP:0008830 | Hypoplastic pubic rami |
| http://purl.obolibrary.org/obo/GO_0060786 | regulation of cell differentiation involved in tissue homeostasis |
| http://purl.obolibrary.org/obo/GO_0060785 | regulation of apoptosis involved in tissue homeostasis |
| http://purl.obolibrary.org/obo/UBERON_0012356 | pedal acropodium region |
| http://purl.obolibrary.org/obo/GO_0060784 | regulation of cell proliferation involved in tissue homeostasis |
| HP:0008835 | Multicentric femoral head ossification |
| http://purl.obolibrary.org/obo/UBERON_0012355 | manual acropodium region |
| http://purl.obolibrary.org/obo/UBERON_0012354 | acropodium region |
| HP:0008833 | Irregular acetabular roof |
| HP:0008838 | Stippled calcification proximal humeral epiphyses |
| HP:0008839 | Hypoplastic pelvis |
| http://purl.obolibrary.org/obo/UBERON_0012361 | internal anal region |
| http://purl.obolibrary.org/obo/UBERON_0000389 | lens cortex |
| http://purl.obolibrary.org/obo/UBERON_0000388 | epiglottis |
| http://purl.obolibrary.org/obo/UBERON_0000383 | musculature of body |
| HP:0008845 | Mesomelic short stature |
| HP:0008846 | Severe intrauterine growth retardation |
| HP:0008843 | Hip osteoarthritis |
| HP:0008848 | Moderately short stature |
| http://purl.obolibrary.org/obo/UBERON_0012375 | subserosa |
| http://purl.obolibrary.org/obo/PR_000049328 | PR:000049328 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/UBERON_0012373 | sympathetic nerve plexus |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3618 | FCGR2B (human) |
| http://purl.obolibrary.org/obo/UBERON_0000399 | jejunal mucosa |
| http://purl.obolibrary.org/obo/UBERON_0000390 | lens nucleus |
| HP:0008850 | Severe postnatal growth retardation |
| http://purl.obolibrary.org/obo/GO_0060764 | cell-cell signaling involved in mammary gland development |
| http://purl.obolibrary.org/obo/UBERON_0000395 | cochlear ganglion |
| http://purl.obolibrary.org/obo/UBERON_0012378 | muscle layer of urinary bladder |
| http://purl.obolibrary.org/obo/GO_0060761 | negative regulation of response to cytokine stimulus |
| HP:0008857 | Neonatal short-trunk short stature |
| http://purl.obolibrary.org/obo/GO_0060760 | positive regulation of response to cytokine stimulus |
| http://purl.obolibrary.org/obo/GO_0060759 | regulation of response to cytokine stimulus |
| http://purl.obolibrary.org/obo/UBERON_0012377 | muscle layer of jejunum |
| HP:0008855 | Moderate postnatal growth retardation |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3609 | FCER1A (human) |
| http://purl.obolibrary.org/obo/GO_0045144 | meiotic sister chromatid segregation |
| http://purl.obolibrary.org/obo/GO_0045132 | meiotic chromosome segregation |
| http://purl.obolibrary.org/obo/GO_0033152 | immunoglobulin V(D)J recombination |
| http://purl.obolibrary.org/obo/GO_0033151 | V(D)J recombination |
| HP:0006202 | Osteolysis of scaphoids |
| HP:0006201 | Hypermobility of distal interphalangeal joints |
| HP:0006200 | Widened distal phalanges |
| HP:0006206 | Hypersegmentation of proximal phalanx of second finger |
| HP:0006205 | Irregular phalanges |
| HP:0008866 | Failure to thrive secondary to recurrent infections |
| HP:0006203 | Decreased movement range in interphalangeal joints |
| HP:0006209 | Partial-complete absence of 5th phalanges |
| HP:0006208 | Metaphyseal cupping of proximal phalanges |
| HP:0006207 | Partial fusion of carpals |
| HP:0031110 | Twin-to-twin transfusion |
| HP:0031111 | Cutaneous hamartoma |
| http://purl.obolibrary.org/obo/UBERON_0000332 | yellow bone marrow |
| http://purl.obolibrary.org/obo/UBERON_0000331 | ileal mucosa |
| http://purl.obolibrary.org/obo/UBERON_0000333 | intestinal gland |
| HP:0006180 | Crowded carpal bones |
| HP:0006176 | Two carpal ossification centers present at birth |
| HP:0006067 | Multiple carpal ossification centers |
| HP:0006175 | Proximal phalangeal periosteal thickening |
| http://purl.obolibrary.org/obo/UBERON_0012318 | anterior ethmoidal artery |
| HP:0006174 | Metacarpal diaphyseal endosteal sclerosis |
| http://purl.obolibrary.org/obo/UBERON_0012319 | posterior ethmoidal artery |
| http://purl.obolibrary.org/obo/UBERON_0005193 | ethmoidal artery |
| HP:0006179 | Pseudoepiphyses of second metacarpal |
| HP:0010220 | Abnormality of the epiphysis of the 2nd metacarpal |
| HP:0009193 | Pseudoepiphyses of the metacarpals |
| http://purl.obolibrary.org/obo/UBERON_0012312 | maxillary process ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0012313 | 1st arch maxillary ectoderm |
| HP:0031117 | Purely bicuspid aortic valve |
| http://purl.obolibrary.org/obo/UBERON_0012317 | vagina orifice |
| HP:0031119 | Bicuspid aortic valve with right-left cusp fusion |
| HP:0031103 | Decreased antimullerian hormone level |
| HP:0031102 | Increased antimullerian hormone level |
| HP:0031101 | Abnormal antimullerian hormone level |
| HP:0031100 | Decreased inhibin B level |
| HP:0031099 | Abnormal circulating inhibin level |
| HP:0006190 | Radially deviated wrists |
| http://purl.obolibrary.org/obo/UBERON_0000345 | myelin |
| http://purl.obolibrary.org/obo/UBERON_0000347 | entire myelin sheath |
| HP:0006193 | Thimble-shaped middle phalanges of hand |
| http://purl.obolibrary.org/obo/UBERON_0000349 | limbic system |
| HP:0006191 | Deep palmar crease |
| http://purl.obolibrary.org/obo/UBERON_0000348 | ophthalmic nerve |
| HP:0006187 | Fusion of midphalangeal joints |
| HP:0006185 | Enlarged proximal interphalangeal joints |
| HP:0006247 | Enlarged interphalangeal joints |
| HP:0006184 | Decreased palmar creases |
| HP:0010488 | Aplasia/Hypoplasia of the palmar creases |
| HP:0006189 | Prominent interdigital folds |
| HP:0031107 | Decreased fibular diameter |
| http://purl.obolibrary.org/obo/CHEBI_33541 | thiosulfate(1-) |
| HP:0031106 | T-shaped uterus |
| http://purl.obolibrary.org/obo/CHEBI_33540 | thiosulfuric acid |
| http://purl.obolibrary.org/obo/UBERON_0012321 | deep cervical artery |
| http://purl.obolibrary.org/obo/CHEBI_33543 | sulfonate |
| HP:0031104 | Insulin receptor antibody positivity |
| HP:0031109 | Agalactia |
| HP:0031094 | Abnormal breast physiology |
| HP:0031108 | Triceps weakness |
| http://purl.obolibrary.org/obo/UBERON_0000358 | blastocyst |
| http://purl.obolibrary.org/obo/UBERON_0000351 | nuchal ligament |
| http://purl.obolibrary.org/obo/UBERON_0012332 | broad ligament of uterus |
| http://purl.obolibrary.org/obo/CHEBI_45557 | sec-butyl group |
| http://purl.obolibrary.org/obo/UBERON_0000369 | corpus striatum |
| http://purl.obolibrary.org/obo/CHEBI_33569 | noradrenaline |
| http://purl.obolibrary.org/obo/UBERON_0000362 | renal medulla |
| http://purl.obolibrary.org/obo/CHEBI_33568 | adrenaline |
| HP:0031154 | Beaded vitreous appearance |
| HP:0031153 | Membranous vitreous appearance |
| HP:0031152 | Full-thickness macular hole |
| http://purl.obolibrary.org/obo/NCBITaxon_7742 | http://purl.obolibrary.org/obo/NCBITaxon_7742 |
| HP:0031151 | Vitreomacular traction |
| HP:0031158 | Widened atrophic scar |
| HP:0031157 | Carotid cavernous fistula |
| HP:0031156 | Decreased platelet glycoprotein Ib |
| HP:0031155 | Increased Arden ratio of electrooculogram |
| HP:0031150 | Vitreomacular adhesion |
| http://purl.obolibrary.org/obo/UBERON_0002956 | granular layer of cerebellar cortex |
| HP:0008794 | Dysplastic iliac wings |
| HP:0008797 | Early ossification of capital femoral epiphyses |
| HP:0006136 | Bilateral postaxial polydactyly |
| HP:0008798 | Widened greater sciatic notch |
| HP:0008796 | Externally rotated hips |
| http://purl.obolibrary.org/obo/UBERON_0014930 | perivascular space |
| HP:0031159 | Thinning of Descemet membrane |
| http://purl.obolibrary.org/obo/UBERON_0036301 | vasculature of spleen |
| http://purl.obolibrary.org/obo/UBERON_0036304 | anatomical border |
| HP:0031143 | Decreased hepatic echogenicity |
| http://purl.obolibrary.org/obo/UBERON_0000307 | blastula |
| http://purl.obolibrary.org/obo/UBERON_0000309 | body wall |
| HP:0031141 | Increased hepatic echogenicity |
| HP:0031142 | Abnormal hepatic echogenicity |
| HP:0031146 | Impaired oral bolus formation |
| HP:0031145 | Starry sky appearance on hepatic sonography |
| HP:0031144 | Coarsened hepatic echotexture |
| HP:0031140 | Abnormal liver sonography |
| HP:0006150 | Swan neck-like deformities of the fingers |
| http://purl.obolibrary.org/obo/UBERON_0000303 | adductor longus |
| http://purl.obolibrary.org/obo/UBERON_0000305 | amnion |
| http://purl.obolibrary.org/obo/UBERON_0000304 | tendon sheath |
| HP:0006140 | Premature fusion of phalangeal epiphyses |
| HP:0006147 | Progressive fusion 2nd-5th pip joints |
| HP:0006146 | Broad metacarpal epiphyses |
| HP:0006134 | Enlarged metacarpal epiphyses |
| HP:0006145 | Central Y-shaped metacarpal |
| HP:0006042 | Y-shaped metacarpals |
| HP:0006144 | Shortening of all proximal phalanges of the fingers |
| HP:0010241 | Short proximal phalanx of finger |
| HP:0006149 | Increased laxity of fingers |
| HP:0031130 | Impaired calcium ionophore-induced platelet aggregation |
| HP:0031136 | Decreased acrosin in sperm head |
| HP:0031134 | Cor triatrium sinister |
| HP:0031133 | Increased annexin V binding to platelet phosphatidylserine |
| HP:0031132 | Impaired annexin V binding to platelet phosphatidylserine |
| HP:0031131 | Abnormal platelet phosphatidylserine exposure |
| HP:0006161 | Short metacarpals with rounded proximal ends |
| HP:0006160 | Irregular metacarpals |
| http://purl.obolibrary.org/obo/UBERON_0000313 | portion of cartilage tissue in tibia |
| http://purl.obolibrary.org/obo/UBERON_0007391 | pelvic appendage cartilage tissue |
| http://purl.obolibrary.org/obo/UBERON_0000316 | cervical mucus |
| http://purl.obolibrary.org/obo/UBERON_0000315 | subarachnoid space |
| HP:0006153 | Disharmonious carpal bone |
| HP:0006157 | Prominent palmar flexion creases |
| HP:0006156 | Ulnar deviation of thumb |
| HP:0009465 | Ulnar deviation of finger |
| HP:0006155 | Long phalanx of finger |
| HP:0031139 | Frog-leg posture |
| HP:0031121 | Bicuspid aortic valve with left-noncoronary cusp fusion |
| HP:0031120 | Bicuspid aortic valve with right-noncoronary cusp fusion |
| HP:0031118 | Single raphe bicuspid aortic valve |
| HP:0031125 | Decreased platelet alpha-2A-adrenergic receptor |
| HP:0031124 | Decreased platelet thromboxane A2 receptor |
| HP:0031123 | Recurrent gastroenteritis |
| HP:0031122 | Two-raphe bicuspid aortic valve |
| http://purl.obolibrary.org/obo/UBERON_0000320 | duodenal mucosa |
| http://purl.obolibrary.org/obo/UBERON_0000323 | late embryo |
| HP:0006172 | Flattened, squared-off epiphyses of tubular bones |
| http://purl.obolibrary.org/obo/UBERON_0002988 | first dorsal interosseous of manus |
| HP:0006170 | Chess-pawn distal phalanges |
| http://purl.obolibrary.org/obo/UBERON_0000326 | pancreatic juice |
| HP:0006165 | Proportionate shortening of all digits |
| HP:0006163 | Enlarged metacarpophalangeal joints |
| HP:0006162 | Soft tissue swelling of interphalangeal joints |
| HP:0006169 | Decreased mobility 3rd-5th fingers |
| HP:0006135 | Decreased finger mobility |
| HP:0006167 | Prominent proximal interphalangeal joints |
| HP:0006237 | Prominent interphalangeal joints |
| HP:0006166 | Tubular metacarpal bones |
| HP:0031129 | Impaired phorbol myristate acetate-induced platelet aggregation |
| HP:0031128 | Impaired collagen-related peptide-induced platelet aggregation |
| HP:0031127 | Impaired convulxin-induced platelet aggregation |
| HP:0031126 | Impaired clot retraction |
| HP:0031198 | Renal tubular epithelial cell casts |
| HP:0031197 | Cellular urinary casts |
| HP:0031196 | Thin myocardium compact layer |
| http://purl.obolibrary.org/obo/UBERON_0002916 | central sulcus |
| HP:0031195 | Apical hypertrabeculation of the left ventricle |
| HP:0031190 | Superficial dermal perivascular inflammatory infiltrate |
| HP:0031194 | Increased density of left ventricular trabeculae |
| HP:0031193 | Abnormal morphology of right ventricular trabeculae |
| HP:0031191 | Deep dermal perivascular inflammatory infiltrate |
| HP:0031187 | Abnormality of circulating pregnenolone level |
| http://purl.obolibrary.org/obo/UBERON_0002925 | trigeminal nucleus |
| HP:0031186 | Abnormal circulating deoxycorticosterone level |
| HP:0031185 | Increased NT-proBNP level |
| HP:0031138 | Abnormal B-type natriuretic peptide level |
| http://purl.obolibrary.org/obo/UBERON_0002928 | dentate gyrus polymorphic layer |
| HP:0031189 | Wrist drop |
| HP:0031188 | Genital edema |
| http://purl.obolibrary.org/obo/UBERON_0002921 | longitudinal fissure |
| HP:0031181 | Necrolytic migratory erythema |
| http://www.informatics.jax.org/marker/MGI:96616 | Itgb7 (mouse) |
| HP:0031180 | Erythema migrans |
| http://purl.obolibrary.org/obo/UBERON_0014903 | primordial vasculature |
| HP:0031176 | Absent thoracic vertebra |
| HP:0031175 | Absent cervical vertebra |
| HP:0008465 | Absent vertebra |
| HP:0031174 | Double-layered patella |
| HP:0031173 | Tibial spur |
| HP:0031179 | Nuchal rigidity |
| HP:0031178 | Fixed head retroflexion |
| HP:0031177 | Finger flexor weakness |
| http://www.informatics.jax.org/marker/MGI:96601 | Itga2b (mouse) |
| HP:0031172 | Sectoral retinitis pigmentosa |
| http://www.informatics.jax.org/marker/MGI:96607 | Itgam (mouse) |
| HP:0031171 | Femoral spur |
| HP:0031170 | Female fetal virilization |
| HP:0031165 | Multifocal seizures |
| HP:0031164 | Growth arrest lines |
| HP:0031163 | Low femoral bone density |
| HP:0031162 | Impaired oropharyngeal swallow response |
| HP:0031169 | Postterm pregnancy |
| HP:0031167 | Triggered by ingestion of potassium-rich food |
| HP:0031166 | Eyelid myokymia |
| HP:0031161 | Reduced brain glutamate level by MRS |
| HP:0031160 | Myelokathexis |
| HP:0012135 | Abnormal granulocytopoietic cell morphology |
| http://purl.obolibrary.org/obo/CHEBI_33504 | alkali metal cation |
| HP:0008915 | Childhood-onset truncal obesity |
| HP:0008929 | Asymmetric short stature |
| http://purl.obolibrary.org/obo/UBERON_0036295 | renal pelvis/ureter |
| http://purl.obolibrary.org/obo/UBERON_0036290 | myocardium of anterior wall of left ventricle |
| http://purl.obolibrary.org/obo/UBERON_0036291 | myocardium of anterior wall of right ventricle |
| http://purl.obolibrary.org/obo/GO_0033048 | negative regulation of mitotic sister chromatid segregation |
| http://purl.obolibrary.org/obo/GO_0033046 | negative regulation of sister chromatid segregation |
| http://purl.obolibrary.org/obo/GO_0033047 | regulation of mitotic sister chromatid segregation |
| http://purl.obolibrary.org/obo/GO_0033045 | regulation of sister chromatid segregation |
| http://purl.obolibrary.org/obo/GO_0060632 | regulation of microtubule-based movement |
| HP:0008922 | Childhood-onset short-trunk short stature |
| HP:0008921 | Neonatal short-limb short stature |
| http://purl.obolibrary.org/obo/UBERON_0036288 | anterior wall of left ventricle |
| http://purl.obolibrary.org/obo/UBERON_0036289 | anterior wall of right ventricle |
| http://purl.obolibrary.org/obo/UBERON_0036286 | wall of right ventricle |
| http://purl.obolibrary.org/obo/UBERON_0036285 | wall of left ventricle |
| http://purl.obolibrary.org/obo/GO_0060606 | tube closure |
| HP:0008935 | Generalized neonatal hypotonia |
| HP:0008936 | Muscular hypotonia of the trunk |
| HP:0008940 | Generalized lymphadenopathy |
| HP:0008945 | Loss of ability to walk in early childhood |
| HP:0008942 | Acute rhabdomyolysis |
| HP:0008948 | Proximal upper limb amyotrophy |
| HP:0008946 | Pelvic girdle amyotrophy |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0008909 | Lethal short-limbed short stature |
| http://purl.obolibrary.org/obo/UBERON_0012276 | endometrium glandular epithelium |
| http://purl.obolibrary.org/obo/UBERON_0007589 | ciliated columnar oviduct epithelium |
| HP:0008991 | Exercise-induced leg cramps |
| HP:0006330 | Rotated maxillary central incisors |
| HP:0006334 | Hypoplasia of the primary teeth |
| HP:0006333 | Crowded maxillary incisors |
| HP:0008993 | Increased intraabdominal fat |
| HP:0006332 | Supernumerary maxillary incisor |
| HP:0006338 | Malformation of mandibular premolar |
| HP:0006337 | Premature eruption of permanent teeth |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0006336 | Short dental roots |
| http://purl.obolibrary.org/obo/UBERON_0012278 | gland of nasal mucosa |
| HP:0006335 | Persistence of primary teeth |
| http://purl.obolibrary.org/obo/UBERON_0036224 | corticobulbar and corticospinal tracts |
| HP:0006339 | Conical mandibular incisor |
| http://purl.obolibrary.org/obo/UBERON_0012282 | mammary fat pad |
| http://purl.obolibrary.org/obo/UBERON_0012283 | femoral fat pad |
| http://purl.obolibrary.org/obo/UBERON_0036212 | intertragic incisure |
| http://purl.obolibrary.org/obo/GO_0008015 | blood circulation |
| http://purl.obolibrary.org/obo/GO_0003013 | circulatory system process |
| HP:0006344 | Abnormality of primary molar morphology |
| HP:0006342 | Peg-shaped maxillary lateral incisors |
| HP:0006349 | Agenesis of permanent teeth |
| http://purl.obolibrary.org/obo/GO_0035630 | bone mineralization involved in bone maturation |
| HP:0006347 | Microdontia of primary teeth |
| HP:0006346 | Screwdriver-shaped incisors |
| http://purl.obolibrary.org/obo/UBERON_0036214 | rectosigmoid junction |
| http://purl.obolibrary.org/obo/UBERON_0012291 | lateral malleolus of fibula |
| http://purl.obolibrary.org/obo/UBERON_0012292 | embryonic cloacal fold |
| http://purl.obolibrary.org/obo/UBERON_0012290 | fused carpal bones 2 and 3 |
| HP:0006352 | Failure of eruption of permanent teeth |
| HP:0006350 | Obliteration of the pulp chamber |
| HP:0006353 | Hypoplasia of the tooth germ |
| http://purl.obolibrary.org/obo/UBERON_0012299 | mucosa of urethra |
| HP:0006358 | Shovel-shaped maxillary central incisors |
| HP:0006357 | Premature loss of permanent teeth |
| http://purl.obolibrary.org/obo/CHEBI_57485 | carnosine zwitterion |
| HP:0006370 | Distal ulnar epiphyseal stippling |
| HP:0006362 | Varus deformity of humeral neck |
| HP:0006367 | Crumpled long bones |
| HP:0006366 | Adductor longus contractures |
| HP:0006369 | Irregular patellae |
| HP:0006368 | Forearm reduction defects |
| http://purl.obolibrary.org/obo/UBERON_0036264 | zygomaticotemporal nerve |
| http://purl.obolibrary.org/obo/UBERON_0014890 | right hemisphere of cerebellum |
| http://purl.obolibrary.org/obo/UBERON_0036267 | vulval vein |
| HP:0031311 | Middle cerebral artery calcification |
| http://purl.obolibrary.org/obo/UBERON_0036262 | uterine ligament |
| HP:0031310 | Basilar artery calcification |
| http://purl.obolibrary.org/obo/GO_0033001 | Fc-gamma receptor III complex |
| http://purl.obolibrary.org/obo/GO_0032997 | Fc receptor complex |
| HP:0031316 | Abnormal ventricular myocardium morphology |
| HP:0008955 | Progressive distal muscular atrophy |
| HP:0031315 | External carotid artery calcification |
| http://purl.obolibrary.org/obo/UBERON_0012236 | intercostal lymph node |
| http://purl.obolibrary.org/obo/UBERON_0007644 | thoracic lymph node |
| HP:0031313 | Abdominal aortic calcification |
| HP:0008954 | Intrinsic hand muscle atrophy |
| http://purl.obolibrary.org/obo/UBERON_0036268 | pelvic vein |
| http://purl.obolibrary.org/obo/UBERON_0012239 | urinary bladder vasculature |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0031319 | Cardiomyocyte hypertrophy |
| HP:0031318 | Myofiber disarray |
| HP:0031317 | Fatty replacement of ventricular myocardial tissue |
| http://purl.obolibrary.org/obo/UBERON_0012242 | internal urethral orifice |
| http://purl.obolibrary.org/obo/PR_P29965 | CD40 ligand (human) |
| HP:0031300 | Abnormal circulating properdin level |
| http://purl.obolibrary.org/obo/UBERON_0012241 | male urethral meatus |
| http://purl.obolibrary.org/obo/PR_P17931 | galectin-3 (human) |
| HP:0008962 | Calf muscle hypoplasia |
| HP:0008963 | Tibialis muscle weakness |
| HP:0031305 | Tibial arterial calcification |
| HP:0008967 | Exercise-induced muscle stiffness |
| HP:0031304 | Iliac arterial calcification |
| http://purl.obolibrary.org/obo/UBERON_0012247 | cervical gland |
| HP:0031303 | Femoral arterial calcification |
| HP:0008964 | Nonprogressive muscular atrophy |
| HP:0031302 | Lower extremity peripheral arterial calcification |
| HP:0031301 | Peripheral arterial calcification |
| HP:0006302 | Dagger-shaped pulp calcifications |
| HP:0031309 | Cerebral artery calcification |
| HP:0006308 | Atrophy of alveolar ridges |
| HP:0031308 | Vertebral artery calcification |
| http://purl.obolibrary.org/obo/UBERON_0012248 | cervical mucosa |
| HP:0031307 | Internal carotid artery calcification |
| HP:0031314 | Carotid artery calcification |
| HP:0031306 | Intracranial arterial calcification |
| http://purl.obolibrary.org/obo/UBERON_0012249 | ectocervix |
| HP:0008969 | Leg muscle stiffness |
| http://purl.obolibrary.org/obo/UBERON_0036242 | post-embryonic notochord |
| http://purl.obolibrary.org/obo/UBERON_0036243 | vaginal fluid |
| http://purl.obolibrary.org/obo/UBERON_0036245 | parenchyma of mammary gland |
| http://purl.obolibrary.org/obo/UBERON_0012253 | cervical squamo-columnar junction |
| http://purl.obolibrary.org/obo/UBERON_0012251 | ectocervical epithelium |
| http://purl.obolibrary.org/obo/UBERON_0012252 | endocervical epithelium |
| http://purl.obolibrary.org/obo/UBERON_0012250 | cervix glandular epithelium |
| HP:0008970 | Scapulohumeral muscular dystrophy |
| http://purl.obolibrary.org/obo/PR_P17947 | PR:P17947 located_in GO:0005654 |
| HP:0006311 | Generalized microdontia |
| HP:0006316 | Irregularly spaced teeth |
| HP:0008978 | Necrotizing myopathy |
| HP:0006315 | Single median maxillary incisor |
| HP:0006313 | Widely spaced primary teeth |
| HP:0000687 | Widely spaced teeth |
| http://purl.obolibrary.org/obo/UBERON_0036246 | incudostapedial joint |
| http://purl.obolibrary.org/obo/UBERON_0036247 | incudomallear joint |
| http://purl.obolibrary.org/obo/UBERON_0036248 | joint of auditory ossicle |
| http://zfin.org/action/marker/view/ZDB-GENE-000210-20 | cat (zebrafish) |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0008984 | Neck muscle hypoplasia |
| HP:0006323 | Premature loss of primary teeth |
| HP:0008985 | Increased intramuscular fat |
| HP:0009126 | Increased adipose tissue |
| HP:0009025 | Increased connective tissue |
| HP:0006321 | Multiple non-erupting secondary teeth |
| HP:0006326 | Buried teeth encased in mucopolysaccharide |
| HP:0008986 | Agenesis of the diaphragm |
| HP:0006329 | Alveolar process hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0000219 | vertebral foramen of atlas |
| HP:0031231 | Narrow incisura width |
| HP:0031230 | Decreased incisura length |
| http://purl.obolibrary.org/obo/UBERON_0000218 | vertebral arch of axis |
| HP:0031235 | Predominantly epidermal neutrophilic infiltrate |
| HP:0031233 | Horizontal inferior border of scapula |
| HP:0031232 | Increased incisura width |
| http://purl.obolibrary.org/obo/UBERON_0000210 | tetrapod parietal bone |
| http://purl.obolibrary.org/obo/UBERON_0002871 | hypoglossal nucleus |
| HP:0006298 | Prolonged bleeding after dental extraction |
| http://purl.obolibrary.org/obo/UBERON_0014852 | chorda tendinea of right ventricle |
| HP:0031239 | Extrafoveal choroidal neovascularization |
| http://purl.obolibrary.org/obo/UBERON_0014851 | chorda tendinea of left ventricle |
| HP:0031238 | Necklace skeletal muscle fibers |
| HP:0031237 | Internally nucleated skeletal muscle fibers |
| http://purl.obolibrary.org/obo/PR_O93507 | T-cell acute lymphocytic leukemia protein 1 homolog (zebrafish) |
| HP:0031236 | Predominantly dermal neutrophilic infiltrate |
| HP:0031234 | Neutrophilic infiltration of the skin |
| http://purl.obolibrary.org/obo/CHEBI_33432 | monoatomic chlorine |
| http://purl.obolibrary.org/obo/CHEBI_33433 | monoatomic halogen |
| http://purl.obolibrary.org/obo/CHEBI_33431 | elemental chlorine |
| http://purl.obolibrary.org/obo/CHEBI_33434 | elemental halogen |
| HP:0031220 | Increased radioactive iodine uptake |
| http://purl.obolibrary.org/obo/PR_P15391 | B-lymphocyte antigen CD19 (human) |
| HP:0031224 | Diffuse pancreatic islet hyperplasia |
| HP:0031223 | Focal pancreatic islet hyperplasia |
| HP:0031222 | Increased circulating thyroxine-binding globulin level |
| http://purl.obolibrary.org/obo/UBERON_0000220 | atlanto-occipital joint |
| HP:0031227 | Nasopharyngeal teratoma |
| HP:0031226 | Perinephric fluid collection |
| HP:0031225 | Intrapulmonary shunt |
| HP:0031229 | Increased incisura length |
| HP:0031228 | Abnormal incisura morphology |
| HP:0031213 | Elevated circulating 17-hydroxyprogesterone |
| http://purl.obolibrary.org/obo/UBERON_0014872 | distal epiphysis of distal phalanx of pedal digit 2 |
| HP:0031211 | Elevated cholesterol ester level |
| http://purl.obolibrary.org/obo/UBERON_0014871 | distal epiphysis of distal phalanx of pedal digit 1 |
| HP:0031210 | Abnormal circulating hyaluronic acid concentration |
| http://purl.obolibrary.org/obo/UBERON_0014874 | distal epiphysis of distal phalanx of pedal digit 4 |
| HP:0031217 | Hot flashes |
| http://purl.obolibrary.org/obo/UBERON_0014873 | distal epiphysis of distal phalanx of pedal digit 3 |
| HP:0031216 | Increased circulating progesterone |
| HP:0031215 | Decreased circulating dehydroepiandrosterone-sulfate level |
| http://purl.obolibrary.org/obo/UBERON_0014875 | distal epiphysis of distal phalanx of pedal digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0014876 | distal epiphysis of distal phalanx of pedal digit |
| HP:0031214 | Decreased circulating dehydroepiandrosterone level |
| HP:0031219 | Reduced radioactive iodine uptake |
| HP:0031221 | Abnormal radioactive iodine uptake test result |
| HP:0031218 | Inappropriate antidiuretic hormone secretion |
| http://purl.obolibrary.org/obo/UBERON_0014881 | distal epiphysis of distal phalanx of manual digit 1 |
| HP:0031202 | Waxy casts |
| HP:0031201 | Granular casts |
| HP:0031200 | Hyaline casts |
| http://purl.obolibrary.org/obo/UBERON_0014883 | distal epiphysis of distal phalanx of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0014882 | distal epiphysis of distal phalanx of manual digit 2 |
| HP:0031206 | Striatal T2 hyperintensity |
| http://purl.obolibrary.org/obo/UBERON_0014885 | distal epiphysis of distal phalanx of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0014884 | distal epiphysis of distal phalanx of manual digit 4 |
| HP:0031205 | Reduced lysosomal acid lipase activity |
| HP:0031204 | Bacterial cell casts |
| http://purl.obolibrary.org/obo/UBERON_0014886 | distal epiphysis of distal phalanx of manual digit |
| http://purl.obolibrary.org/obo/UBERON_0014887 | distal epiphysis of distal phalanx of digit |
| HP:0031203 | Fatty casts |
| http://purl.obolibrary.org/obo/UBERON_0014889 | left hemisphere of cerebellum |
| HP:0031209 | Decreased lipoprotein lipase level |
| HP:0031208 | Increased pituitary glycoprotein hormone alpha subunit level |
| HP:0031207 | Hepatic hemangioma |
| HP:0031275 | Distributive shock |
| HP:0031274 | Hypovolemic shock |
| HP:0031272 | Pulmonary arterial atherosclerosis |
| HP:0031278 | Abnormal thoracic duct morphology |
| HP:0031276 | Obstructive shock |
| HP:0031271 | Absent ankle pulse |
| HP:0031270 | Decreased CD25 upregulation upon TCR activation |
| HP:0006253 | Swelling of proximal interphalangeal joints |
| HP:0006252 | Interphalangeal joint erosions |
| HP:0006251 | Limited wrist extension |
| HP:0006248 | Limited wrist movement |
| HP:0031261 | Bladder polyp |
| HP:0031268 | Decreased CD69 upregulation upon TCR activation |
| HP:0031267 | Abnormal CD69 upregulation upon TCR activation |
| HP:0031266 | Podocyte foot process effacement |
| HP:0031260 | Triangular tibia |
| HP:0006270 | Hypoplastic spleen |
| HP:0006264 | Aplasia/Hypoplasia of the 2nd finger |
| HP:0006263 | Abnormality of the epiphyses of the 2nd finger |
| HP:0006268 | Fluctuating splenomegaly |
| HP:0006266 | Small placenta |
| http://purl.obolibrary.org/obo/CHEBI_57433 | sarcosine zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_66884 | N-alkylglycine zwitterion |
| HP:0031269 | Abnormal CD25 upregulation upon TCR activation |
| HP:0031253 | Anomalous origin of left subclavian artery |
| HP:0031252 | Dilated left subclavian artery |
| HP:0031250 | Lip fissure |
| HP:0031257 | Arteriovenous malformation of the maxilla |
| HP:0031256 | Optic nerve arteriovenous malformation |
| HP:0031255 | Hypothalamic arteriovenous malformation |
| HP:0031254 | Thalamic arteriovenous malformation |
| HP:0006282 | Generalized hypoplasia of dental enamel |
| HP:0006280 | Chronic pancreatitis |
| HP:0006274 | Reduced pancreatic beta cells |
| HP:0006273 | Pancreatic lymphangiectasis |
| HP:0006279 | Beta-cell dysfunction |
| HP:0006278 | Ectopic pancreatic tissue |
| HP:0006277 | Pancreatic hyperplasia |
| HP:0006276 | Hyperechogenic pancreas |
| HP:0031259 | Oophoritis |
| HP:0031258 | Delirium |
| HP:0031242 | Decreased circulating chylomicron concentration |
| HP:0031241 | Subfoveal choroidal neovascularization |
| HP:0031240 | Juxtafoveal choroidal neovascularization |
| http://purl.obolibrary.org/obo/UBERON_0000209 | tetrapod frontal bone |
| HP:0031246 | Nonproductive cough |
| HP:0031245 | Productive cough |
| HP:0031244 | Swollen lip |
| HP:0031243 | Decreased VLDL cholesterol concentration |
| http://purl.obolibrary.org/obo/UBERON_0000204 | ventral part of telencephalon |
| http://purl.obolibrary.org/obo/UBERON_0000203 | pallium |
| HP:0006291 | Marked delay in eruption of permanent teeth |
| HP:0000696 | Delayed eruption of permanent teeth |
| HP:0000684 | Delayed eruption of teeth |
| HP:0006290 | Discolored lateral incisors |
| HP:0006286 | Yellow-brown discoloration of the teeth |
| http://purl.obolibrary.org/obo/UBERON_0014848 | tendon of quadriceps femoris |
| HP:0006283 | Multiple unerupted teeth |
| http://purl.obolibrary.org/obo/PR_P15379 | CD44 antigen (mouse) |
| HP:0006288 | Advanced eruption of teeth |
| HP:0031249 | Parageusia |
| HP:0031248 | Palmar pruritus |
| HP:0031247 | Whooping cough |
| HP:0012735 | Cough |
| http://purl.obolibrary.org/obo/UBERON_0014847 | vastus intermedius |
| http://purl.obolibrary.org/obo/PR_000050171 | IgD immunoglobulin complex, circulating (human) |
| http://purl.obolibrary.org/obo/PR_000050170 | IgD immunoglobulin complex (human) |
| http://purl.obolibrary.org/obo/UBERON_0002803 | right parietal lobe |
| http://purl.obolibrary.org/obo/UBERON_0002804 | left limbic lobe |
| http://purl.obolibrary.org/obo/UBERON_0002805 | right limbic lobe |
| http://purl.obolibrary.org/obo/UBERON_0002808 | left temporal lobe |
| http://purl.obolibrary.org/obo/UBERON_0002809 | right temporal lobe |
| http://purl.obolibrary.org/obo/UBERON_0002802 | left parietal lobe |
| HP:0031297 | Unroofed coronary sinus |
| HP:0031296 | Atrial septal hypertrophy |
| HP:0031295 | Left atrial enlargement |
| HP:0031294 | Hypoplastic right atrium |
| HP:0031299 | Elevated left atrial pressure |
| HP:0031298 | Coronary sinus enlargement |
| http://purl.obolibrary.org/obo/UBERON_0002810 | right frontal lobe |
| HP:0031293 | Digital pitting scar |
| http://purl.obolibrary.org/obo/UBERON_0002811 | left frontal lobe |
| http://purl.obolibrary.org/obo/UBERON_0002812 | left cerebral hemisphere |
| HP:0031291 | Ichthyosis follicularis |
| http://purl.obolibrary.org/obo/UBERON_0002813 | right cerebral hemisphere |
| HP:0031290 | Tuberous xanthoma |
| HP:0031286 | Perifollicular erythema |
| http://purl.obolibrary.org/obo/UBERON_0002827 | vestibulocochlear ganglion |
| HP:0031283 | Tufted hairs |
| HP:0031289 | White papule |
| HP:0031288 | Cobblestone-like hyperkeratosis |
| HP:0031287 | Seborrheic keratosis |
| http://purl.obolibrary.org/obo/PR_000050184 | Ig kappa light chain protein (human) |
| http://purl.obolibrary.org/obo/PR_000050181 | Ig kappa light chain protein |
| http://purl.obolibrary.org/obo/PR_000050185 | Ig lambda light chain protein (human) |
| http://purl.obolibrary.org/obo/PR_000050182 | Ig lambda light chain protein |
| http://purl.obolibrary.org/obo/PR_000050183 | immunoglobulin light chain protein (human) |
| http://purl.obolibrary.org/obo/PR_000050175 | immunoglobulin light chain protein |
| HP:0031282 | Malalignment of the great toenail |
| HP:0031281 | Sialadenitis |
| http://purl.obolibrary.org/obo/PR_000050187 | IgD heavy chain protein (human) |
| http://purl.obolibrary.org/obo/PR_000050186 | IgD heavy chain protein |
| http://purl.obolibrary.org/obo/PR_000050174 | immunoglobulin heavy chain protein |
| HP:0031280 | Increased LH response to gonadotropin-releasing hormone stimulation test |
| http://purl.obolibrary.org/obo/UBERON_0002824 | vestibular ganglion |
| http://www.informatics.jax.org/marker/MGI:96549 | Il2ra (mouse) |
| http://www.informatics.jax.org/marker/MGI:96550 | Il2rb (mouse) |
| http://www.informatics.jax.org/marker/MGI:96553 | Il3ra (mouse) |
| http://purl.obolibrary.org/obo/PR_P08575-3 | receptor-type tyrosine-protein phosphatase C isoform CD45RABC (human) |
| http://purl.obolibrary.org/obo/PR_P08575-8 | receptor-type tyrosine-protein phosphatase C isoform CD45RA (human) |
| HP:0006409 | Progressive leg bowing |
| HP:0006400 | Absent knee epiphyses |
| http://purl.obolibrary.org/obo/GO_0060973 | cell migration involved in heart development |
| HP:0006402 | Distal shortening of limbs |
| HP:0006408 | Distal tapering femur |
| HP:0006407 | Irregular distal femoral epiphysis |
| HP:0006406 | Club-shaped proximal femur |
| http://purl.obolibrary.org/obo/UBERON_0012193 | phrenic vein |
| http://purl.obolibrary.org/obo/UBERON_0012198 | intercostal space |
| http://purl.obolibrary.org/obo/UBERON_0012197 | intercostal vein |
| http://purl.obolibrary.org/obo/UBERON_0012151 | skeleton of manual digitopodium |
| http://purl.obolibrary.org/obo/UBERON_0012152 | skeleton of pedal digitopodium |
| http://purl.obolibrary.org/obo/UBERON_0012150 | skeleton of digitopodium |
| http://purl.obolibrary.org/obo/CHEBI_67142 | nucleobase analogue |
| http://purl.obolibrary.org/obo/UBERON_0000170 | pair of lungs |
| HP:0006450 | Multicentric ossification of proximal femoral epiphyses |
| HP:0009107 | Abnormal ossification involving the femoral head and neck |
| http://purl.obolibrary.org/obo/UBERON_0000173 | amniotic fluid |
| HP:0006454 | Delayed patellar ossification |
| HP:0006453 | Lateral displacement of the femoral head |
| HP:0006459 | Dorsal subluxation of ulna |
| HP:0006456 | Irregular proximal tibial epiphyses |
| HP:0010591 | Abnormality of the proximal tibial epiphysis |
| http://purl.obolibrary.org/obo/CL_0007011 | enteric neuron |
| http://purl.obolibrary.org/obo/CL_0000107 | autonomic neuron |
| http://purl.obolibrary.org/obo/CL_2000032 | peripheral nervous system neuron |
| http://purl.obolibrary.org/obo/CL_0000029 | neuron neural crest derived |
| HP:0006462 | Generalized bone demineralization |
| HP:0006461 | Proximal femoral epiphysiolysis |
| HP:0006460 | Increased laxity of ankles |
| HP:0006466 | Ankle flexion contracture |
| HP:0006465 | Periosteal thickening of long tubular bones |
| HP:0006463 | Rickets of the lower limbs |
| HP:0002748 | Rickets |
| http://purl.obolibrary.org/obo/CL_0007004 | premigratory neural crest cell |
| http://purl.obolibrary.org/obo/UBERON_0012167 | buccal fat pad |
| http://purl.obolibrary.org/obo/UBERON_0012168 | umbilical cord blood |
| HP:0006467 | Limited shoulder movement |
| http://purl.obolibrary.org/obo/UBERON_0012172 | stomach primordium |
| http://purl.obolibrary.org/obo/UBERON_0012175 | acoustico-facial VII-VIII ganglion complex |
| http://purl.obolibrary.org/obo/UBERON_0000199 | neck of radius |
| HP:0006480 | Premature loss of teeth |
| HP:0006473 | Anterior bowing of long bones |
| HP:0006471 | Fixed elbow flexion |
| HP:0006470 | Thin long bone diaphyses |
| http://purl.obolibrary.org/obo/NCBITaxon_7955 | Danio rerio |
| http://purl.obolibrary.org/obo/UBERON_0036146 | cardiopharyngeal field |
| HP:0031433 | Alexithymia |
| HP:0031432 | Persistent repetition of actions |
| http://purl.obolibrary.org/obo/UBERON_0014770 | palpebral artery |
| HP:0031431 | Persistent repetition of words |
| HP:0031430 | Oligoclonal T cell expansion |
| http://purl.obolibrary.org/obo/UBERON_0002792 | lumbar spinal cord |
| http://purl.obolibrary.org/obo/GO_0033363 | secretory granule organization |
| http://purl.obolibrary.org/obo/UBERON_0014775 | prosomere |
| HP:0006415 | Cortically dense long tubular bones |
| HP:0031436 | Increased pitch variability of speech |
| HP:0006414 | Distal tibial bowing |
| HP:0031435 | Monotonic speech |
| http://purl.obolibrary.org/obo/UBERON_0014777 | spinal neuromere |
| HP:0006413 | Broad tibial metaphyses |
| HP:0031434 | Abnormal speech prosody |
| http://purl.obolibrary.org/obo/UBERON_0014776 | midbrain neuromere |
| HP:0031439 | Abnormal angiostatin level |
| HP:0031438 | Abnormal sex hormone-binding globulin level |
| http://purl.obolibrary.org/obo/UBERON_0014780 | palatine aponeurosis |
| HP:0031421 | Small superior frontal cortex |
| HP:0031420 | Small yellow foveal lesion with surrounding gray zone |
| http://purl.obolibrary.org/obo/CHEBI_67195 | gap junctional intercellular communication inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_67199 | AP-1 antagonist |
| http://purl.obolibrary.org/obo/CHEBI_67198 | retinoic acid receptor agonist |
| HP:0006420 | Asymmetric radial dysplasia |
| http://purl.obolibrary.org/obo/PR_P17813 | endoglin (human) |
| http://purl.obolibrary.org/obo/CHEBI_133580 | N-hexanoylglycinate |
| HP:0031426 | Decreased circulating beta-C-terminal telopeptide level |
| http://purl.obolibrary.org/obo/UBERON_0012125 | dermatological-muscosal system |
| HP:0006426 | Rudimentary to absent tibiae |
| HP:0031425 | Increased circulating beta-C-terminal telopeptide level |
| http://purl.obolibrary.org/obo/UBERON_0012126 | fibulare |
| HP:0031424 | Abnormal circulating beta-C-terminal telopeptide level |
| HP:0006424 | Elongated radius |
| HP:0031423 | Small cerebellar cortex |
| HP:0031422 | Abnormal morphology of the cerebellar cortex |
| HP:0006423 | Peg-like central prominence of distal tibial metaphyses |
| HP:0031429 | Decreased circulating osteocalcin level |
| HP:0006429 | Broad femoral neck |
| HP:0031428 | Increased circulating osteocalcin level |
| HP:0031427 | Abnormal circulating osteocalcin level |
| http://purl.obolibrary.org/obo/UBERON_0012128 | nose tip |
| http://purl.obolibrary.org/obo/UBERON_0014791 | musculature of forelimb stylopod |
| http://purl.obolibrary.org/obo/UBERON_0014790 | lingual septum |
| HP:0031410 | Abnormal distribution of CD56 bright/dim natural killer cells |
| http://purl.obolibrary.org/obo/UBERON_0000159 | anal canal |
| HP:0006432 | Trapezoidal distal femoral condyles |
| http://purl.obolibrary.org/obo/UBERON_0000154 | posterior region of body |
| http://purl.obolibrary.org/obo/UBERON_0000153 | anterior region of body |
| HP:0031415 | High serum calcitriol |
| HP:0006437 | Disproportionate prominence of the femoral medial condyle |
| HP:0031414 | High serum calcifediol |
| http://purl.obolibrary.org/obo/UBERON_0014796 | common tendinous ring |
| HP:0031413 | Short telomere length |
| HP:0031412 | Abnormal telomere morphology |
| HP:0031411 | Abnormal chromosome morphology |
| HP:0006434 | Hypoplasia of proximal radius |
| HP:0002984 | Hypoplasia of the radius |
| HP:0031419 | Reduced sex -hormone binding protein level |
| HP:0031418 | Increased body mass index |
| HP:0031417 | Rhinorrhea |
| HP:0006439 | Radioulnar dislocation |
| HP:0031416 | Abnormal nasal mucus secretion |
| HP:0006438 | Enlargement of the distal femoral epiphysis |
| http://purl.obolibrary.org/obo/UBERON_0012141 | manual digitopodium region |
| http://purl.obolibrary.org/obo/UBERON_0012142 | pedal digitopodium region |
| http://purl.obolibrary.org/obo/UBERON_0012140 | digitopodium region |
| http://purl.obolibrary.org/obo/UBERON_0000167 | oral cavity |
| http://purl.obolibrary.org/obo/UBERON_0000166 | oral opening |
| http://purl.obolibrary.org/obo/UBERON_0000160 | intestine |
| http://purl.obolibrary.org/obo/UBERON_0000163 | embryonic cloaca |
| HP:0006443 | Patellar aplasia |
| http://purl.obolibrary.org/obo/UBERON_0000162 | cloaca |
| http://purl.obolibrary.org/obo/UBERON_0000165 | mouth |
| HP:0006442 | Hypoplasia of proximal fibula |
| http://purl.obolibrary.org/obo/UBERON_0000164 | primitive urogenital sinus |
| HP:0006441 | Lateral humeral condyle aplasia |
| HP:0031403 | Impaired pathogen-specific CD8 cytoxicity |
| HP:0031402 | Reduced antigen-specific T cell proliferation |
| HP:0006446 | Dysplastic patella |
| HP:0031401 | Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells |
| HP:0031408 | Increased proportion of CD25+ mast cells |
| HP:0031407 | Impaired cytokine signaling |
| HP:0031406 | Abnormal cytokine signaling |
| HP:0031405 | Poroma |
| HP:0006449 | Distal radial epiphyseal osteolysis |
| HP:0031352 | Chest tightness |
| HP:0031351 | Calcified amorphous tumor of the heart |
| HP:0031350 | Cardiac sarcoma |
| HP:0031356 | Terminal insomnia |
| HP:0031355 | Maintenance insomnia |
| HP:0031354 | Sleep onset Insomnia |
| HP:0100785 | Insomnia |
| HP:0031353 | Otitis media with effusion |
| HP:0000388 | Otitis media |
| http://purl.obolibrary.org/obo/GO_0008301 | DNA binding, bending |
| http://purl.obolibrary.org/obo/GO_0003677 | DNA binding |
| http://purl.obolibrary.org/obo/GO_0003676 | nucleic acid binding |
| HP:0031359 | Cutaneous sclerotic plaque |
| HP:0031358 | Vegetative state |
| HP:0031357 | Glomeruloid hemangioma |
| http://purl.obolibrary.org/obo/UBERON_0000109 | gastrula stage |
| HP:0031341 | Gastric arteriovenous malformation |
| http://purl.obolibrary.org/obo/UBERON_0000108 | blastula stage |
| HP:0031345 | Colonic arteriovenous malformation |
| HP:0031344 | Pelvic arteriovenous malformation |
| HP:0031343 | Jejunal arteriovenous malformation |
| HP:0031342 | Duodenal arteriovenous malformation |
| http://purl.obolibrary.org/obo/UBERON_0000102 | lung vasculature |
| http://www.informatics.jax.org/marker/MGI:106910 | Ly76 (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_18186 | tyrosine |
| http://purl.obolibrary.org/obo/UBERON_0000104 | life cycle |
| http://www.informatics.jax.org/marker/MGI:106912 | Adgre1 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0000107 | cleavage stage |
| http://purl.obolibrary.org/obo/UBERON_0000106 | zygote stage |
| http://purl.obolibrary.org/obo/CHEBI_18183 | 5-oxo-L-proline |
| HP:0031349 | Levotransposition of the great arteries |
| HP:0031348 | Dextrotransposition of the great arteries |
| HP:0031347 | Uterine arteriovenous malformation |
| HP:0031346 | Rectal arteriovenous malformation |
| HP:0002629 | Gastrointestinal arteriovenous malformation |
| HP:0031330 | Perivascular myocardial immune cell infiltration |
| HP:0031334 | Cardiomyocyte inclusion bodies |
| HP:0031333 | Myocardial sarcomeric disarray |
| HP:0031332 | Cardiomyocyte degeneration |
| http://purl.obolibrary.org/obo/UBERON_0000112 | sexually immature stage |
| http://purl.obolibrary.org/obo/UBERON_0000111 | organogenesis stage |
| http://purl.obolibrary.org/obo/UBERON_0000113 | post-juvenile adult stage |
| http://purl.obolibrary.org/obo/UBERON_0000118 | lung bud |
| http://purl.obolibrary.org/obo/UBERON_0000110 | neurula stage |
| HP:0031338 | Abnormal cardiomyocyte plakoglobin staining |
| HP:0031337 | Abnormal cardiomyocyte connexin43 staining |
| HP:0031336 | Intranuclear cardiomyocyte mitochondria |
| HP:0031335 | Abnormal cardiomyocyte mitochondrial morphology |
| HP:0031339 | Abnormal cadiomyocyte dystrophin staining |
| HP:0031323 | Myocardial eosinophilic infiltration |
| HP:0031322 | Myocardial lymphocytic infiltration |
| HP:0031320 | Cardiomyocyte mitochondrial proliferation |
| HP:0031331 | Abnormal cardiomyocyte morphology |
| http://purl.obolibrary.org/obo/GO_0035929 | steroid hormone secretion |
| http://purl.obolibrary.org/obo/GO_0060986 | endocrine hormone secretion |
| http://purl.obolibrary.org/obo/UBERON_0002787 | decussation of trochlear nerve |
| http://purl.obolibrary.org/obo/UBERON_0000127 | facial nucleus |
| http://purl.obolibrary.org/obo/UBERON_0000128 | olivary body |
| HP:0031327 | Transthyretin cardiac amyloidosis |
| HP:0031326 | Monoclonal light chain cardiac amyloidosis |
| http://purl.obolibrary.org/obo/UBERON_0014763 | fused metatarsal bones 2-4 |
| http://purl.obolibrary.org/obo/UBERON_0014762 | fused metapodial bones 2-4 |
| HP:0031325 | Myocardial granulomatous infiltrates |
| http://purl.obolibrary.org/obo/UBERON_0014766 | right crus of diaphragm |
| HP:0031324 | Myocardial multinucleated giant cells |
| HP:0031321 | Myocardial immune cell infiltration |
| http://purl.obolibrary.org/obo/UBERON_0014768 | superior palpebral vein |
| http://purl.obolibrary.org/obo/UBERON_0014767 | left crus of diaphragm |
| http://purl.obolibrary.org/obo/UBERON_0014765 | crus of diaphragm |
| HP:0031329 | Interstitial cardiac fibrosis |
| HP:0031328 | Perivascular cardiac fibrosis |
| HP:0031394 | Abnormal CD4:CD8 ratio |
| HP:0031399 | Abnormal proportion of double-negative alpha-beta regulatory T cell |
| HP:0006381 | Rudimentary fibula |
| HP:0031391 | Elevated MHC II surface expression |
| HP:0006380 | Knee flexion contracture |
| HP:0031390 | Reduced MHC II surface expression |
| http://purl.obolibrary.org/obo/GO_0035936 | testosterone secretion |
| HP:0006371 | Broad long bone diaphyses |
| HP:0006378 | Osteolysis of patellae |
| HP:0006375 | Dumbbell-shaped femur |
| HP:0006379 | Proximal tibial hypoplasia |
| http://purl.obolibrary.org/obo/PR_P40240 | CD9 antigen (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0002726 | cervical spinal cord |
| HP:0031385 | Megakaryocyte nucleus hypolobulation |
| HP:0031384 | Reduced T cell CD40 expression |
| HP:0031382 | Decreased lymphocyte proliferation in response to anti-CD3 |
| HP:0031389 | Abnormal MHC II surface expression |
| HP:0031388 | Megakaryocyte nucleus hyperlobulation |
| HP:0031387 | Increased multinucleated megakaryocyte count |
| HP:0031386 | Increased micromegakaryocyte count |
| http://purl.obolibrary.org/obo/CARO_0001010 | organism or virus or viroid |
| http://purl.obolibrary.org/obo/UBERON_0002722 | trochlear nucleus |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen |
| HP:0006391 | Overtubulated long bones |
| HP:0031380 | Abnormal B cell proliferation |
| HP:0006390 | Anterior tibial bowing |
| HP:0002982 | Tibial bowing |
| http://purl.obolibrary.org/obo/CHEBI_133610 | N-isobutyrylglycinate |
| http://purl.obolibrary.org/obo/UBERON_0014706 | primitive renal collecting duct system |
| http://purl.obolibrary.org/obo/UBERON_0007501 | arborizing epithelial duct system |
| http://purl.obolibrary.org/obo/UBERON_0014705 | median lingual swelling epithelium |
| HP:0006384 | Club-shaped distal femur |
| HP:0006387 | Wide distal femoral metaphysis |
| HP:0006417 | Broad femoral metaphyses |
| HP:0006386 | Hypoplastic distal radial epiphyses |
| http://purl.obolibrary.org/obo/UBERON_0014702 | frontonasal process epithelium |
| http://purl.obolibrary.org/obo/UBERON_0014704 | pleuroperitoneal canal lumen |
| HP:0031374 | Ankle weakness |
| HP:0031373 | Stiff tongue |
| HP:0031372 | Cold paresis |
| HP:0031371 | Rectal perforation |
| http://purl.obolibrary.org/obo/CHEBI_133608 | 1-methylhistidine zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_133609 | 3-methylhistidine zwitterion |
| HP:0031375 | Refractory |
| HP:0031370 | Small intestinal perforation |
| http://purl.obolibrary.org/obo/UBERON_0014717 | mucous acinus |
| HP:0006394 | Limited pronation/supination of forearm |
| http://purl.obolibrary.org/obo/GO_0070288 | ferritin complex |
| HP:0006398 | Flat distal femoral epiphysis |
| HP:0010590 | Abnormality of the distal femoral epiphysis |
| HP:0006397 | Lateral displacement of patellae |
| HP:0031363 | Palpable purpura |
| HP:0031362 | Sex-limited autosomal recessive inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0031361 | Zebra bodies |
| HP:0031340 | Abnormal lysosomal morphology |
| HP:0031360 | Yellow skin plaque |
| HP:0031366 | Palate neoplasm |
| HP:0031364 | Ecchymosis |
| HP:0031365 | Macular purpura |
| HP:0000979 | Purpura |
| http://purl.obolibrary.org/obo/UBERON_0002742 | lamina of septum pellucidum |
| http://purl.obolibrary.org/obo/CHEBI_43176 | hydroxy group |
| http://purl.obolibrary.org/obo/UBERON_0002743 | basal forebrain |
| http://purl.obolibrary.org/obo/GO_0070293 | renal absorption |
| http://purl.obolibrary.org/obo/GO_0003014 | renal system process |
| http://purl.obolibrary.org/obo/UBERON_0014720 | interlobar duct |
| HP:0031369 | Colon perforation |
| HP:0031368 | Intestinal perforation |
| http://purl.obolibrary.org/obo/CHEBI_4439 | dermatan |
| http://purl.obolibrary.org/obo/CHEBI_18101 | 4-hydroxyphenylacetic acid |
| http://purl.obolibrary.org/obo/CHEBI_33700 | proteinogenic amino-acid residue |
| http://purl.obolibrary.org/obo/UBERON_0002707 | corticospinal tract |
| http://purl.obolibrary.org/obo/CHEBI_18139 | trimethylamine |
| http://purl.obolibrary.org/obo/CHEBI_25274 | methylamines |
| http://purl.obolibrary.org/obo/CHEBI_32876 | tertiary amine |
| http://purl.obolibrary.org/obo/CHEBI_21766 | N-methylglycines |
| http://purl.obolibrary.org/obo/CHEBI_66933 | N-alkylglycine |
| http://purl.obolibrary.org/obo/CHEBI_21760 | N-methyl-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_18140 | hydrogen halide |
| http://purl.obolibrary.org/obo/CHEBI_33405 | hydracid |
| http://www.informatics.jax.org/marker/MGI:96417 | Ids (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_57726 | D-proline zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_59871 | D-alpha-amino acid zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_70709 | progesterone receptor agonist |
| HP:0006509 | Diverticulosis of trachea |
| HP:0006508 | Abnormality of tibial epiphyses |
| http://purl.obolibrary.org/obo/CHEBI_533015 | 3,3',5-triiodo-L-thyronine zwitterion |
| HP:0006519 | Alveolar cell carcinoma |
| HP:0006510 | Chronic pulmonary obstruction |
| http://www.informatics.jax.org/marker/MGI:96213 | Hpd (mouse) |
| http://purl.obolibrary.org/obo/GO_0060841 | venous blood vessel development |
| http://purl.obolibrary.org/obo/GO_0001568 | blood vessel development |
| HP:0006514 | Intraalveolar nodular calcifications |
| HP:0006511 | Laryngeal stridor |
| HP:0006518 | Pulmonary venous occlusion |
| HP:0006517 | Alveolar proteinosis |
| HP:0006516 | Hypersensitivity pneumonitis |
| HP:0006515 | Interstitial pneumonitis |
| HP:0006521 | Pulmonary lymphangiectasia |
| HP:0006520 | Progressive pulmonary function impairment |
| HP:0006524 | Tracheobronchial leiomyomatosis |
| HP:0006522 | Repeated pneumothoraces |
| HP:0006529 | Abnormal pulmonary lymphatics |
| HP:0006528 | Chronic lung disease |
| HP:0006527 | Lymphoid interstitial pneumonia |
| http://purl.obolibrary.org/obo/UBERON_0012073 | tooth of palatine bone |
| http://purl.obolibrary.org/obo/UBERON_0012074 | bony part of hard palate |
| http://purl.obolibrary.org/obo/UBERON_0012072 | palatal part of dermatocranium |
| http://purl.obolibrary.org/obo/UBERON_0012076 | tibiotalar joint |
| http://purl.obolibrary.org/obo/PR_Q3V009 | transmembrane emp24 domain-containing protein 1 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0000092 | post-embryonic stage |
| http://purl.obolibrary.org/obo/UBERON_0000095 | cardiac neural crest |
| http://purl.obolibrary.org/obo/UBERON_0000091 | bilaminar disc |
| http://purl.obolibrary.org/obo/UBERON_0012082 | bronchial lumen |
| http://purl.obolibrary.org/obo/CHEBI_79026 | molybdenum cofactor(3-) |
| http://purl.obolibrary.org/obo/UBERON_0012080 | patella cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0012081 | patella pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0036073 | respiratory primordium mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0036074 | vein of vestibular aqueduct |
| http://purl.obolibrary.org/obo/UBERON_0036072 | respiratory primordium epithelium |
| http://purl.obolibrary.org/obo/PR_000001483 | low affinity immunoglobulin gamma Fc region receptor III |
| HP:0031510 | Linear earlobe crease |
| http://purl.obolibrary.org/obo/UBERON_0014693 | inferior alveolar artery |
| http://purl.obolibrary.org/obo/UBERON_0009654 | alveolar artery |
| http://purl.obolibrary.org/obo/UBERON_0014695 | deep auricular artery |
| http://purl.obolibrary.org/obo/UBERON_0009655 | auricular artery |
| http://purl.obolibrary.org/obo/UBERON_0000059 | large intestine |
| HP:0006572 | Subacute progressive viral hepatitis |
| HP:0006571 | Reduced number of intrahepatic bile ducts |
| HP:0031519 | Cauliflower deformity of dermal collagen fibrils |
| http://purl.obolibrary.org/obo/UBERON_0000053 | macula lutea |
| HP:0006576 | Hepatic vascular malformations |
| HP:0006575 | Intrahepatic cholestasis with episodic jaundice |
| HP:0006574 | Hepatic arteriovenous malformation |
| http://purl.obolibrary.org/obo/GO_0070265 | necrotic cell death |
| http://purl.obolibrary.org/obo/UBERON_0000054 | macula |
| HP:0006573 | Acute hepatic steatosis |
| HP:0031514 | Increased proportion of exhausted T cells |
| HP:0031513 | Luse bodies |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0031512 | Abnormal cutaneous collagen fibril morphology |
| HP:0031511 | Diagonal earlobe crease |
| http://purl.obolibrary.org/obo/UBERON_0014699 | extraembryonic venous system |
| http://purl.obolibrary.org/obo/UBERON_0014701 | extraembryonic vascular system |
| HP:0006577 | Macronodular cirrhosis |
| HP:0031518 | Absent posterior alpha rhythm |
| HP:0031517 | Verruciform xanthoma |
| HP:0031516 | Oocyte arrest at metaphase I |
| HP:0031515 | Abnormal meiosis |
| http://purl.obolibrary.org/obo/UBERON_0000068 | embryo stage |
| HP:0006590 | Premature sternal synostosis |
| HP:0006583 | Fatal liver failure in infancy |
| HP:0006582 | Reye syndrome-like episodes |
| HP:0031509 | Dry nipple |
| HP:0006581 | Depletion of mitochondrial DNA in liver |
| HP:0006580 | Portal fibrosis |
| HP:0006587 | Straight clavicles |
| http://purl.obolibrary.org/obo/UBERON_0000066 | fully formed stage |
| HP:0006585 | Congenital pseudoarthrosis of the clavicle |
| http://purl.obolibrary.org/obo/UBERON_0000065 | respiratory tract |
| HP:0006584 | Small abnormally formed scapulae |
| HP:0031503 | Night gasping |
| HP:0031502 | Trophoblastic tumor |
| HP:0031501 | Pelvic mass |
| HP:0006589 | Flaring of lower rib cage |
| HP:0000904 | Flaring of rib cage |
| HP:0031500 | Abdominal mass |
| HP:0031507 | Decreased circulating thyroxine level |
| HP:0031506 | Increased circulating thyroxine level |
| HP:0031505 | Abnormal circulating thyroxine level |
| HP:0031504 | Foamy urine |
| http://purl.obolibrary.org/obo/GO_0035878 | nail development |
| http://purl.obolibrary.org/obo/UBERON_0012054 | myocoele |
| http://purl.obolibrary.org/obo/UBERON_0000079 | male reproductive system |
| http://purl.obolibrary.org/obo/UBERON_0000990 | reproductive system |
| http://purl.obolibrary.org/obo/UBERON_0000078 | mixed ectoderm/mesoderm/endoderm-derived structure |
| http://purl.obolibrary.org/obo/UBERON_0000071 | death stage |
| HP:0006593 | Anomalous rib insertion to vertebrae |
| HP:0006591 | Absent glenoid fossa |
| HP:0006598 | Irregular ossification at anterior rib ends |
| HP:0006597 | Diaphragmatic paralysis |
| HP:0009113 | Diaphragmatic weakness |
| HP:0006596 | Restricted chest movement |
| http://purl.obolibrary.org/obo/UBERON_0000076 | external ectoderm |
| HP:0006595 | Scapulohumeral synostosis |
| http://purl.obolibrary.org/obo/PR_000025408 | T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed glycosylated form |
| http://purl.obolibrary.org/obo/PR_000025409 | T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed glycosylated form |
| http://purl.obolibrary.org/obo/PR_000025407 | T-cell surface glycoprotein CD8 beta chain isoform 1, signal peptide removed form |
| HP:0006599 | Medial widening of clavicles |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=3765 | FLT3 (human) |
| http://purl.obolibrary.org/obo/UBERON_0000081 | metanephros |
| http://purl.obolibrary.org/obo/UBERON_0000084 | ureteric bud |
| http://purl.obolibrary.org/obo/UBERON_0000083 | mesonephric tubule |
| http://purl.obolibrary.org/obo/UBERON_0005103 | mesonephric epithelium |
| http://purl.obolibrary.org/obo/UBERON_0000086 | zona pellucida |
| http://purl.obolibrary.org/obo/UBERON_0000085 | morula |
| http://purl.obolibrary.org/obo/UBERON_0000088 | trophoblast |
| http://purl.obolibrary.org/obo/UBERON_0000087 | inner cell mass |
| http://purl.obolibrary.org/obo/UBERON_0000080 | mesonephros |
| HP:0031554 | Reduced granulocyte CD55 level |
| http://purl.obolibrary.org/obo/UBERON_0000013 | sympathetic nervous system |
| http://purl.obolibrary.org/obo/UBERON_0000012 | somatic nervous system |
| http://purl.obolibrary.org/obo/UBERON_0000017 | exocrine pancreas |
| http://purl.obolibrary.org/obo/UBERON_0000016 | endocrine pancreas |
| http://purl.obolibrary.org/obo/UBERON_0000019 | camera-type eye |
| HP:0006532 | Recurrent pneumonia |
| HP:0002783 | Recurrent lower respiratory tract infections |
| http://purl.obolibrary.org/obo/UBERON_0024045 | white matter of the cerebellar cortex |
| HP:0006531 | Pleural lymphangiectasia |
| http://purl.obolibrary.org/obo/UBERON_0000011 | parasympathetic nervous system |
| http://purl.obolibrary.org/obo/UBERON_0000010 | peripheral nervous system |
| http://purl.obolibrary.org/obo/UBERON_0002673 | vestibular nuclear complex |
| HP:0031558 | Reduced fibroblast CD59 level |
| HP:0031557 | Reduced fibroblast CD55 level |
| HP:0006535 | Recurrent intrapulmonary hemorrhage |
| HP:0031556 | Reduced granulocyte CD16 level |
| HP:0031555 | Reduced granulocyte CD59 level |
| HP:0006533 | Bronchodysplasia |
| http://purl.obolibrary.org/obo/GO_0070227 | lymphocyte apoptotic process |
| HP:0006539 | Bronchial cartilage hypoplasia |
| HP:0006538 | Recurrent bronchopulmonary infections |
| HP:0031559 | Reduced fibroblast CD16 level |
| HP:0031552 | Reduced fibroblast surface marker level |
| http://purl.obolibrary.org/obo/GO_0070229 | negative regulation of lymphocyte apoptotic process |
| http://purl.obolibrary.org/obo/UBERON_0036013 | intergluteal cleft |
| http://purl.obolibrary.org/obo/UBERON_0036014 | gluteal sulcus |
| HP:0031542 | Myelin-like whorls in vacuolated fibers |
| HP:0031541 | Linear C3 deposits along the epidermal basement membrane zone |
| HP:0031540 | Linear IgG deposits along the epidermal basement membrane zone |
| HP:0006543 | Cardiorespiratory arrest |
| http://purl.obolibrary.org/obo/GO_0070230 | positive regulation of lymphocyte apoptotic process |
| http://purl.obolibrary.org/obo/GO_0070228 | regulation of lymphocyte apoptotic process |
| http://purl.obolibrary.org/obo/UBERON_0002682 | abducens nucleus |
| HP:0031545 | Abnormally low T cell receptor excision circle level |
| HP:0031544 | Elevated propionylcarnitine level |
| HP:0006544 | Extrapulmonary sequestrum |
| http://purl.obolibrary.org/obo/UBERON_0014668 | distal interphalangeal joint of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0007729 | interphalangeal joint of manual digit 2 |
| HP:0031549 | Lymphocytoma cutis |
| HP:0006549 | Unilateral primary pulmonary dysgenesis |
| HP:0031548 | Follicular infundibulum tumor |
| HP:0006548 | Pulmonary arteriovenous malformation |
| http://purl.obolibrary.org/obo/UBERON_0014670 | distal interphalangeal joint of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0007731 | interphalangeal joint of manual digit 4 |
| HP:0031532 | Focal sub-RPE deposits |
| http://purl.obolibrary.org/obo/UBERON_0014672 | distal interphalangeal joint of pedal digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0007725 | interphalangeal joint of pedal digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0014671 | distal interphalangeal joint of manural digit 5 |
| HP:0031530 | Multifocal subretinal deposits |
| http://purl.obolibrary.org/obo/UBERON_0014674 | distal interphalangeal joint of pedal digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0007727 | interphalangeal joint of pedal digit 4 |
| HP:0006552 | Fibrocystic lung disease |
| HP:0031536 | Separate origin of the left anterior descending and left circumflex artery |
| HP:0006558 | Decreased mitochondrial complex III activity in liver tissue |
| HP:0031535 | Increased theta frequency activity in EEG |
| http://purl.obolibrary.org/obo/UBERON_0014675 | distal interphalangeal joint of pedal digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0007728 | interphalangeal joint of pedal digit 5 |
| HP:0006557 | Polycystic liver disease |
| HP:0031534 | Passive dorsiflexion of the 5th finger more than 90 degrees |
| HP:0031533 | Multifocal sub-RPE deposits |
| HP:0031531 | Sub-RPE deposits |
| http://purl.obolibrary.org/obo/UBERON_0014677 | distal interphalangeal joint of digit 2 |
| HP:0006555 | Diffuse hepatic steatosis |
| HP:0031539 | Linear IgA deposits along the epidermal basement membrane zone |
| http://purl.obolibrary.org/obo/UBERON_0014679 | distal interphalangeal joint of digit 4 |
| HP:0031537 | Anomalous origin of the left circumflex artery from the right coronary artery |
| HP:0006559 | Hepatic calcification |
| http://purl.obolibrary.org/obo/GO_0045260 | plasma membrane proton-transporting ATP synthase complex |
| http://purl.obolibrary.org/obo/UBERON_0014680 | distal interphalangeal joint of digit 5 |
| HP:0031521 | Vaginal clear cell adenocarcinoma |
| HP:0031520 | Groin pain |
| http://purl.obolibrary.org/obo/UBERON_0000047 | simple eye |
| HP:0006560 | Biliary hyperplasia |
| HP:0006565 | Increased hepatocellular lipid droplets |
| HP:0006564 | Fluctuating hepatomegaly |
| HP:0006563 | Malformation of the hepatic ductal plate |
| HP:0031525 | Keratoacanthoma |
| http://purl.obolibrary.org/obo/UBERON_0014687 | temporal sulcus |
| HP:0031524 | Ampulla of Vater carcinoma |
| http://purl.obolibrary.org/obo/UBERON_0014686 | angular vein |
| HP:0006568 | Increased hepatic glycogen content |
| http://purl.obolibrary.org/obo/GO_0045259 | proton-transporting ATP synthase complex |
| HP:0031523 | Salivary gland oncocytoma |
| HP:0100684 | Salivary gland neoplasm |
| HP:0031522 | Cervical clear cell adenocarcinoma |
| HP:0100650 | Vaginal neoplasm |
| HP:0006566 | Neonatal cholestatic liver disease |
| HP:0002611 | Cholestatic liver disease |
| HP:0031529 | Focal subretinal deposits |
| HP:0031528 | Subretinal deposits |
| HP:0031527 | Intraretinal fluid |
| HP:0031526 | Subretinal fluid |
| HP:0031473 | Hostility |
| HP:0031472 | Risk taking |
| HP:0000734 | Disinhibition |
| HP:0031474 | Pulmonary chondroma |
| http://purl.obolibrary.org/obo/UBERON_0014610 | thoracic spinal cord ventral horn |
| HP:0031479 | Dilatation of the mitral annulus |
| HP:0031478 | Abnormal mitral valve annulus morphology |
| http://purl.obolibrary.org/obo/CHEBI_31011 | valerate |
| http://purl.obolibrary.org/obo/UBERON_0014614 | cervical spinal cord white matter |
| http://purl.obolibrary.org/obo/UBERON_0014613 | cervical spinal cord gray matter |
| HP:0031462 | Musculotendinous retraction |
| HP:0031461 | Intramuscular Myxoma |
| HP:0031460 | Benign muscle neoplasm |
| HP:0031465 | Abnormal vasa vasorum morphology |
| HP:0031464 | Genital blistering |
| HP:0031463 | Esophageal squamous papilloma |
| http://purl.obolibrary.org/obo/CHEBI_18067 | phylloquinone |
| http://purl.obolibrary.org/obo/UBERON_0014621 | cervical spinal cord ventral horn |
| HP:0031469 | Low self esteem |
| HP:0031468 | Separation insecurity |
| HP:0031467 | Negative affectivity |
| http://purl.obolibrary.org/obo/CHEBI_57630 | gamma-amino-beta-hydroxybutyric acid zwitterion |
| HP:0031451 | Lower extremity subcutanous fat hypertrophy |
| HP:0031450 | Polycyclic |
| HP:0031455 | Presacral ganglioneuroma |
| HP:0031454 | Apocrine hidrocystoma |
| HP:0031453 | Oral lichenoid lesion |
| HP:0031452 | Lichenoid skin lesion |
| http://purl.obolibrary.org/obo/GO_0008203 | cholesterol metabolic process |
| http://purl.obolibrary.org/obo/GO_1902652 | secondary alcohol metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0014639 | frontal sulcus |
| HP:0031458 | Adenoiditis |
| HP:0031456 | Ectopic pregnancy |
| http://purl.obolibrary.org/obo/UBERON_0014636 | thoracic spinal cord gray matter |
| http://purl.obolibrary.org/obo/CHEBI_33693 | oxygen hydride |
| http://purl.obolibrary.org/obo/UBERON_0014637 | thoracic spinal cord white matter |
| HP:0031444 | Dilatation of the tricuspid annulus |
| HP:0031443 | Abnormal tricuspid valve leaflet morphology |
| HP:0031441 | Abnormal tricuspid valve annulus morphology |
| http://purl.obolibrary.org/obo/UBERON_0002663 | septal nuclear complex |
| http://purl.obolibrary.org/obo/UBERON_0000002 | uterine cervix |
| http://purl.obolibrary.org/obo/UBERON_0000004 | nose |
| http://purl.obolibrary.org/obo/UBERON_0000006 | islet of Langerhans |
| http://purl.obolibrary.org/obo/UBERON_0000007 | pituitary gland |
| HP:0031448 | Herpetiform vesicles |
| HP:0200037 | Skin vesicle |
| HP:0031447 | Penile freckling |
| HP:0031446 | Erosion of oral mucosa |
| HP:0031445 | Oral mucosa nodule |
| http://purl.obolibrary.org/obo/CHEBI_57652 | chondroitin D-glucuronate anion |
| http://purl.obolibrary.org/obo/UBERON_0014649 | white matter of medulla oblongata |
| http://purl.obolibrary.org/obo/UBERON_0019262 | white matter of myelencephalon |
| HP:0031449 | Perineal hemangioma |
| http://purl.obolibrary.org/obo/PATO_0001025 | pressure |
| http://purl.obolibrary.org/obo/CHEBI_133744 | homovanillate |
| http://purl.obolibrary.org/obo/CHEBI_18095 | trans-4-hydroxy-L-proline |
| http://purl.obolibrary.org/obo/PR_000025402 | T cell receptor co-receptor CD8 |
| http://purl.obolibrary.org/obo/PR_000025406 | T-cell surface glycoprotein CD8 alpha chain isoform 1, signal peptide removed form |
| http://purl.obolibrary.org/obo/CHEBI_45696 | hydrogensulfate |
| http://purl.obolibrary.org/obo/UBERON_0002600 | limbic lobe |
| http://purl.obolibrary.org/obo/PATO_0001020 | damage |
| HP:0031494 | Ovarian mucinous tumor |
| HP:0031499 | Appendiceal mucinous neoplasm |
| HP:0031498 | Mucinous gastric carcinoma |
| HP:0031497 | Mucinous colorectal carcinoma |
| HP:0031496 | Mucinous cystic neoplasm of the pancreas |
| HP:0031495 | Mucinous neoplasm |
| HP:0031493 | Glandular cell neoplasm |
| http://purl.obolibrary.org/obo/UBERON_0002610 | cochlear nuclear complex |
| HP:0031491 | Continuous spike and waves during slow sleep |
| HP:0031490 | Hemangioma of the lip |
| http://purl.obolibrary.org/obo/PATO_0001043 | susceptibility toward |
| http://purl.obolibrary.org/obo/PATO_0001046 | resistance to |
| http://purl.obolibrary.org/obo/GO_0070166 | enamel mineralization |
| HP:0031484 | Cold-induced hemolysis |
| HP:0031483 | Reduced contraction of the left ventricular apex |
| HP:0031482 | Abnormal regional left ventricular contraction |
| HP:0031488 | Arteriovenous malformation of the lip |
| HP:0031487 | Capillary malformation of the lip |
| HP:0031485 | Subperiosteal bone formation |
| http://purl.obolibrary.org/obo/CHEBI_18089 | N-benzoylglycine |
| http://purl.obolibrary.org/obo/GO_0070174 | negative regulation of enamel mineralization |
| http://purl.obolibrary.org/obo/GO_0042489 | negative regulation of odontogenesis of dentin-containing tooth |
| http://purl.obolibrary.org/obo/GO_0070171 | negative regulation of tooth mineralization |
| http://purl.obolibrary.org/obo/GO_0042483 | negative regulation of odontogenesis |
| http://purl.obolibrary.org/obo/GO_0070168 | negative regulation of biomineral tissue development |
| http://purl.obolibrary.org/obo/GO_0070175 | positive regulation of enamel mineralization |
| http://purl.obolibrary.org/obo/GO_0042488 | positive regulation of odontogenesis of dentin-containing tooth |
| http://purl.obolibrary.org/obo/GO_0070173 | regulation of enamel mineralization |
| http://purl.obolibrary.org/obo/GO_0042487 | regulation of odontogenesis of dentin-containing tooth |
| http://purl.obolibrary.org/obo/GO_0070172 | positive regulation of tooth mineralization |
| http://purl.obolibrary.org/obo/GO_0042482 | positive regulation of odontogenesis |
| http://purl.obolibrary.org/obo/GO_0070169 | positive regulation of biomineral tissue development |
| http://purl.obolibrary.org/obo/GO_0070170 | regulation of tooth mineralization |
| http://purl.obolibrary.org/obo/GO_0042481 | regulation of odontogenesis |
| http://purl.obolibrary.org/obo/GO_0070167 | regulation of biomineral tissue development |
| HP:0031489 | Venous malformation of the lip |
| HP:0031486 | Vascular malformation of the lip |
| http://purl.obolibrary.org/obo/CHEBI_21622 | N-acetylneuraminic acids |
| http://www.informatics.jax.org/marker/MGI:98973 | Xdh (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_57606 | 5-oxoprolinate |
| http://purl.obolibrary.org/obo/CHEBI_45630 | 4-oxopentanoic acid |
| http://www.informatics.jax.org/marker/MGI:98941 | Vwf (mouse) |
| HP:0006619 | Anterior rib punctate calcifications |
| HP:0006611 | Decreased number of sternal ossification centers |
| HP:0006610 | Wide intermamillary distance |
| HP:0006615 | Absent in utero rib ossification |
| HP:0006623 | Costochondral joint sclerosis |
| http://purl.obolibrary.org/obo/GO_0045599 | negative regulation of fat cell differentiation |
| HP:0006628 | Absent sternal ossification |
| HP:0006625 | Multifocal breast carcinoma |
| HP:0006631 | Hypoplastic distal segments of scapulae |
| HP:0000882 | Hypoplastic scapulae |
| HP:0006634 | Osteosclerosis of ribs |
| HP:0006633 | Glenoid fossa hypoplasia |
| HP:0006638 | Midclavicular aplasia |
| http://purl.obolibrary.org/obo/GO_0070527 | platelet aggregation |
| HP:0006637 | Sternal punctate calcifications |
| http://purl.obolibrary.org/obo/GO_0045581 | negative regulation of T cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045582 | positive regulation of T cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045580 | regulation of T cell differentiation |
| http://purl.obolibrary.org/obo/CHEBI_50584 | alkyl alcohol |
| HP:0006642 | Large sternal ossification centers |
| HP:0006641 | Prominent floating ribs |
| HP:0006640 | Multiple rib fractures |
| HP:0006646 | Costal cartilage calcification |
| HP:0006645 | Thin clavicles |
| http://purl.obolibrary.org/obo/GO_0045578 | negative regulation of B cell differentiation |
| http://purl.obolibrary.org/obo/GO_0050869 | negative regulation of B cell activation |
| HP:0006644 | Thoracic dysplasia |
| HP:0006643 | Fused sternal ossification centers |
| http://purl.obolibrary.org/obo/GO_0045579 | positive regulation of B cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045577 | regulation of B cell differentiation |
| http://purl.obolibrary.org/obo/GO_0050871 | positive regulation of B cell activation |
| http://purl.obolibrary.org/obo/GO_0050864 | regulation of B cell activation |
| HP:0006649 | Costochondral pain |
| HP:0006647 | Congenital microthorax |
| http://purl.obolibrary.org/obo/GO_0070507 | regulation of microtubule cytoskeleton organization |
| http://purl.obolibrary.org/obo/UBERON_4200230 | surface of bone |
| HP:0006608 | Midclavicular hypoplasia |
| HP:0000894 | Short clavicles |
| HP:0006607 | Precocious costochondral ossification |
| HP:0012306 | Abnormal rib ossification |
| HP:0006600 | Progressive calcification of costochondral cartilage |
| HP:0006606 | Irregular chondrocostal junctions |
| HP:0000919 | Abnormality of the costochondral junction |
| HP:0006603 | Flared, irregular rib ends |
| HP:0000887 | Cupped ribs |
| HP:0031631 | Subpleural honeycombing |
| HP:0006693 | Myocardial steatosis |
| HP:0004033 | Curved olecranon |
| HP:0006692 | Short chordae tendineae of the tricuspid valve |
| HP:0031442 | Abnormal tricuspid chordae tendinae morphology |
| HP:0004034 | Irregular olecranon |
| HP:0004032 | Abnormality of the olecranon |
| HP:0010601 | Abnormality of the proximal ulnar epiphysis |
| HP:0006691 | Pulmonic valve myxoma |
| HP:0006690 | Myocardial calcification |
| HP:0006696 | Polymorphic and polytopic ventricular extrasystoles |
| HP:0004030 | Patchy sclerosis of radial diaphysis |
| HP:0004031 | Broad radial diaphysis |
| HP:0006694 | Early progressive calcific cardiac valvular disease |
| HP:0031635 | Anomalous origin of the left common carotid artery from the brachiocephalic artery |
| HP:0031634 | Anomalous origin of the left common carotid artery from the main pulmonary artery |
| HP:0031633 | Isolation of the left subclavian artery |
| HP:0006699 | Premature atrial contractions |
| HP:0031632 | Anomalous origin of the right subclavian artery from the descending aorta |
| HP:0031251 | Abnormal subclavian artery morphology |
| HP:0031639 | Absent left main coronary artery |
| HP:0004036 | Long styloid process of ulna |
| HP:0031638 | Anomalous origin of the left anterior descending artery from the pulmonary artery |
| HP:0031637 | Right coronary artery ostial atresia |
| http://purl.obolibrary.org/obo/ENVO_01000254 | environmental system |
| http://purl.obolibrary.org/obo/RO_0002577 | system |
| HP:0031636 | Anomalous origin of the right common carotid artery from the aorta |
| HP:0031620 | Anterior chamber flare grade 3+ |
| HP:0004043 | Lytic defects of ulnar metaphysis |
| HP:0004044 | Pointed ulnar metaphysis |
| HP:0004045 | Sloping ulnar metaphysis |
| HP:0031629 | Impaired tandem gait |
| HP:0004046 | Spurred ulnar metaphysis |
| HP:0004040 | Corner fragments of ulnar metaphysis |
| HP:0004041 | Cupped ulnar metaphysis |
| HP:0004042 | Ulnar metaphyseal irregularity |
| HP:0031624 | Moderate myopia |
| HP:0031623 | Brow ptosis |
| HP:0031622 | Brown anomaly |
| HP:0031621 | Anterior chamber flare grade 4+ |
| HP:0031628 | Aborted sudden cardiac death |
| HP:0004047 | Wide ulnar metaphysis |
| HP:0004039 | Abnormality of ulnar metaphysis |
| HP:0031627 | Globus pallidus calcification |
| HP:0004048 | Narrow joint spaces of wrist |
| HP:0004049 | Decreased carpal angles of wrist |
| HP:0031626 | Coronary ostial atresia |
| HP:0031625 | Pseudoaneurysm |
| HP:0004060 | Trident hand |
| http://purl.obolibrary.org/obo/CHEBI_25555 | nitrogen atom |
| HP:0031619 | Anterior chamber flare grade 2+ |
| HP:0031618 | Anterior chamber flare grade 1+ |
| HP:0004057 | Mitten deformity |
| HP:0004050 | Absent hand |
| HP:0004053 | Dysharmonic maturation of the hand bones |
| HP:0031613 | Inferior chorioretinal coloboma |
| HP:0000567 | Chorioretinal coloboma |
| HP:0031611 | Sub-inner limiting membrane hemorrhage |
| HP:0031610 | Recurrent shoulder dislocation |
| HP:0004058 | Hand monodactyly |
| HP:0031616 | Anterior chamber flare |
| HP:0004059 | Radial club hand |
| HP:0006433 | Radial dysplasia |
| HP:0009486 | Radial deviation of the hand |
| HP:0031615 | Hypopyon |
| HP:0031614 | Inferior retinal coloboma |
| HP:0031609 | Geographic atrophy |
| HP:0031607 | Pelvic organ prolapse |
| HP:0031601 | P pulmonale |
| HP:0031600 | P wave inversion |
| HP:0031604 | Agenesis of the carotid canal |
| HP:0031603 | Impaired nasal mucociliary clearance |
| HP:0031602 | Abnormal mucociliary clearance |
| HP:0031671 | Typical atrial flutter |
| HP:0031670 | Continuous heart murmur |
| HP:0031675 | Fascicular left ventricular tachycardia |
| HP:0031674 | Antidromic atrioventricular reentrant tachycardia |
| http://purl.obolibrary.org/obo/UBERON_0014531 | white matter lamina of diencephalon |
| HP:0031673 | Orthodromic atrioventricular reentrant tachycardia |
| HP:0031672 | Reverse typical atrial flutter |
| http://purl.obolibrary.org/obo/CHEBI_50505 | sweetening agent |
| http://purl.obolibrary.org/obo/CHEBI_35617 | flavouring agent |
| http://purl.obolibrary.org/obo/CHEBI_50503 | laxative |
| HP:0006650 | Thickening of the lateral border of the scapula |
| HP:0031679 | Type I atherosclerotic lesion |
| HP:0006657 | Hypoplasia of first ribs |
| http://purl.obolibrary.org/obo/UBERON_0014532 | white matter lamina of cerebral hemisphere |
| HP:0031677 | Polymorphic ventricular tachycardia |
| HP:0006655 | Rib segmentation abnormalities |
| HP:0031676 | Monomorphic ventricular tachycardia |
| HP:0006659 | Internally rotated shoulders |
| HP:0031660 | Loud first heart sound |
| http://purl.obolibrary.org/obo/UBERON_0014540 | white matter lamina of cerebellum |
| http://purl.obolibrary.org/obo/UBERON_0014530 | white matter lamina of neuraxis |
| HP:0031663 | Paradoxical splitting of the second heart sound |
| http://purl.obolibrary.org/obo/UBERON_0014542 | cervical division of cord spinal central canal |
| HP:0031662 | Fixed splitting of the second heart sound |
| http://purl.obolibrary.org/obo/UBERON_0014541 | thoracic division of spinal cord central canal |
| http://purl.obolibrary.org/obo/CHEBI_86508 | alpha-aminobutyrate |
| http://purl.obolibrary.org/obo/PR_Q62351 | transferrin receptor protein 1 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0002567 | basal part of pons |
| HP:0006660 | Aplastic clavicle |
| HP:0004000 | Cone-shaped distal radial epiphysis |
| HP:0004001 | Medially deficient radial epiphyses |
| http://purl.obolibrary.org/obo/UBERON_0002561 | lumen of central nervous system |
| HP:0004007 | Sclerotic radial epiphyses |
| HP:0006668 | Twelfth rib hypoplasia |
| HP:0000773 | Short ribs |
| http://purl.obolibrary.org/obo/UBERON_0014543 | lumbar division of spinal cord central canal |
| HP:0031667 | Holosystolic murmur |
| HP:0004009 | Medially sloping radial epiphyses |
| HP:0004008 | Sloping radial epiphyses |
| HP:0031666 | Late systolic murmur |
| HP:0031665 | Midsystolic murmur |
| HP:0031664 | Systolic heart murmur |
| HP:0006665 | Coat hanger sign of ribs |
| HP:0004003 | Medially flattened radial epiphyses |
| http://purl.obolibrary.org/obo/UBERON_0014547 | sacral division of spinal cord central canal |
| http://purl.obolibrary.org/obo/UBERON_0014538 | subdivision of spinal cord central canal |
| HP:0004004 | Irregular radial epiphyses |
| HP:0004005 | Large radial epiphyses |
| http://purl.obolibrary.org/obo/CHEBI_62501 | folate(2-) |
| HP:0031669 | Middiastolic murmur |
| HP:0031668 | Diastolic heart murmur |
| HP:0004006 | Round radial epiphyses |
| HP:0004010 | Small radial epiphyses |
| HP:0006671 | Paroxysmal atrial tachycardia |
| HP:0006670 | Impaired myocardial contractility |
| HP:0004013 | Medially fused radial epiphyseal plates |
| HP:0004012 | Premature fusion of the radial epiphyseal plates |
| HP:0004018 | Flared radial metaphysis |
| HP:0006679 | Granulomatous coronary arteritis |
| HP:0031656 | Systolic anterior motion of the mitral valve |
| HP:0004019 | Radial metaphyseal irregularity |
| HP:0031655 | Quadricuspid aortic valve |
| HP:0006677 | Prolonged QRS complex |
| HP:0004014 | Broad radial epiphyseal plate |
| HP:0031659 | Fourth heart sound |
| HP:0004016 | Cupped radial metaphyses |
| HP:0031658 | Third heart sound |
| HP:0004017 | Exostoses of the radial metaphysis |
| http://purl.obolibrary.org/obo/UBERON_0002588 | decussation of superior cerebellar peduncle |
| http://purl.obolibrary.org/obo/UBERON_0007418 | neural decussation |
| http://purl.obolibrary.org/obo/UBERON_0002589 | lateral corticospinal tract |
| HP:0004021 | Lytic defects of radial metaphysis |
| HP:0006682 | Ventricular extrasystoles |
| HP:0004022 | Sclerotic radial metaphysis with longitudinal striations |
| HP:0006681 | Absent atrioventricular node |
| HP:0004024 | Medially sloping radial metaphysis |
| HP:0004023 | Sloping radial metaphysis |
| HP:0006685 | Endocardial fibrosis |
| HP:0006684 | Ventricular preexcitation with multiple accessory pathways |
| HP:0004020 | Irregular ossification of the radial metaphysis |
| HP:0006683 | Abnormal ventricular filling |
| HP:0031646 | Fusiform aortic arch aneurysm |
| HP:0004029 | Lytic defects of radial diaphysis |
| HP:0031645 | Saccular abdominal aortic aneurysm |
| HP:0006689 | Bacterial endocarditis |
| HP:0031644 | Fusiform abdominal aortic aneurysm |
| HP:0006688 | Paroxysmal tachycardia |
| HP:0031643 | Fusiform ascending tubular aorta aneurysm |
| HP:0006687 | Aortic tortuosity |
| HP:0004025 | Spurred radial metaphysis |
| HP:0031649 | Aortic rupture |
| HP:0004026 | Broad radial metaphysis |
| HP:0004015 | Abnormality of radial metaphyses |
| HP:0031648 | Penetrating aortic ulcer |
| HP:0031647 | Saccular aortic arch aneurysm |
| HP:0004028 | Spurs of radial diaphysis |
| HP:0004027 | Abnormality of radial diaphysis |
| HP:0031594 | PR segment depression |
| http://purl.obolibrary.org/obo/UBERON_0002517 | basicranium |
| HP:0031592 | Situs inversus with levocardia |
| HP:0031591 | Enlarged Eustachian valve |
| HP:0031598 | Notched P wave |
| HP:0031597 | PR segment elevation |
| HP:0031596 | Abnormal PR segment |
| http://purl.obolibrary.org/obo/UBERON_0002510 | anterior fontanel |
| http://purl.obolibrary.org/obo/GO_0008544 | epidermis development |
| HP:0031590 | Asthenopia |
| HP:0031599 | P mitrale |
| HP:0031595 | Abnormal P wave |
| HP:0031583 | Tessier number 11 facial cleft |
| http://purl.obolibrary.org/obo/UBERON_0002528 | sacral lymph node |
| HP:0031582 | Tessier number 10 facial cleft |
| HP:0031581 | Tessier number 9 facial cleft |
| HP:0031580 | Tessier number 8 facial cleft |
| HP:0031587 | Tessier number 30 facial cleft |
| HP:0031586 | Tessier number 14 facial cleft |
| HP:0031585 | Tessier number 13 facial cleft |
| HP:0031584 | Tessier number 12 facial cleft |
| http://purl.obolibrary.org/obo/UBERON_0002527 | pancreatic lymph node |
| http://purl.obolibrary.org/obo/UBERON_0014508 | distal interphalangeal joint of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0007730 | interphalangeal joint of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0014507 | distal interphalangeal joint of pedal digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0007726 | interphalangeal joint of pedal digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0007721 | interphalangeal joint of pes |
| HP:0031589 | Suicidal ideation |
| HP:0031588 | Unhappy demeanor |
| http://purl.obolibrary.org/obo/UBERON_0014506 | distal interphalangeal joint of digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0009768 | distal interphalangeal joint |
| HP:0031572 | Tessier number 1 facial cleft |
| HP:0031570 | Tessier number 0 facial cleft |
| HP:0100629 | Midline facial cleft |
| HP:0031576 | Tessier number 4 facial cleft |
| HP:0031575 | Tessier number 3 facial cleft |
| HP:0031573 | Tessier number 2 facial cleft |
| HP:0031571 | Paramedian facial cleft |
| http://purl.obolibrary.org/obo/UBERON_0002533 | post-anal tail bud |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8021 | NT5E (human) |
| HP:0031579 | Tessier number 7 facial cleft |
| HP:0031578 | Tessier number 6 facial cleft |
| HP:0100731 | Transverse facial cleft |
| HP:0031577 | Tessier number 5 facial cleft |
| HP:0031574 | Orbital cleft |
| HP:0031561 | Coronary cameral fistula to right ventricle |
| HP:0031560 | Coronary cameral fistula |
| HP:0031565 | Abdominal situs ambiguus |
| HP:0031564 | Bronchial isomerism |
| HP:0031563 | Coronary arteriovenous fistula |
| HP:0031562 | Balanced double aortic arch |
| http://purl.obolibrary.org/obo/GO_0033500 | carbohydrate homeostasis |
| HP:0031569 | Absent aortic valve cusps |
| HP:0031568 | Thickened aortic valve cusp |
| http://purl.obolibrary.org/obo/CHEBI_25512 | neurotransmitter |
| http://purl.obolibrary.org/obo/UBERON_0002506 | iris epithelium |
| http://purl.obolibrary.org/obo/UBERON_0002509 | mesenteric lymph node |
| http://purl.obolibrary.org/obo/UBERON_0002500 | zygomatic arch |
| http://purl.obolibrary.org/obo/UBERON_0002503 | greater trochanter |
| http://purl.obolibrary.org/obo/UBERON_0002504 | lesser trochanter |
| http://purl.obolibrary.org/obo/UBERON_0000980 | trochanter |
| http://purl.obolibrary.org/obo/CHEBI_25500 | neopterins |
| http://purl.obolibrary.org/obo/PR_P17679 | erythroid transcription factor (mouse) |
| http://purl.obolibrary.org/obo/PR_000007857 | erythroid transcription factor |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10903 | SLAMF1 (human) |
| HP:0006739 | Squamous cell carcinoma of the skin |
| HP:0002860 | Squamous cell carcinoma |
| HP:0006733 | Acute megakaryocytic leukemia |
| HP:0006732 | Papillary renal cell carcinoma type 2 |
| HP:0006731 | Follicular thyroid carcinoma |
| HP:0006737 | Extraadrenal pheochromocytoma |
| HP:0006735 | Renal cortical adenoma |
| HP:0006740 | Transitional cell carcinoma of the bladder |
| HP:0002862 | Bladder carcinoma |
| HP:0006744 | Adrenocortical carcinoma |
| HP:0006743 | Embryonal rhabdomyosarcoma |
| HP:0006742 | Congenital neuroblastoma |
| HP:0006748 | Adrenal pheochromocytoma |
| HP:0002666 | Pheochromocytoma |
| HP:0100642 | Neoplasm of the adrenal medulla |
| HP:0006747 | Ganglioneuroblastoma |
| HP:0006751 | Paraspinal neurofibromas |
| HP:0006756 | Diffuse leiomyomatosis |
| HP:0006755 | Cutaneous leiomyosarcoma |
| HP:0006758 | Malignant genitourinary tract tumor |
| http://purl.obolibrary.org/obo/PR_000047056 | PR:000047056 located_in GO:0005576 |
| http://purl.obolibrary.org/obo/PR_000019448 | ceruloplasmin, signal peptide removed form |
| HP:0006763 | Anal canal squamous carcinoma |
| HP:0006762 | Renal pelvic carcinoma |
| HP:0006767 | Pituitary prolactin cell adenoma |
| HP:0006765 | Chondrosarcoma |
| HP:0006769 | Myxoid subcutaneous tumors |
| HP:0006768 | Localized neuroblastoma |
| http://purl.obolibrary.org/obo/GO_0045453 | bone resorption |
| HP:0031719 | True distance exotropia |
| HP:0031718 | Consecutive exotropia |
| HP:0031717 | Alternating exotropia |
| http://purl.obolibrary.org/obo/GO_0045444 | fat cell differentiation |
| HP:0031711 | Asymmetric abdominal aortic aneurysm |
| HP:0031710 | Compensatory head tilt to the left shoulder |
| HP:0031716 | Cyclic exotropia |
| HP:0031715 | Near exotropia |
| HP:0006709 | Aplasia/Hypoplasia of the nipples |
| HP:0031709 | Compensatory head tilt to the right shoulder |
| HP:0031708 | Compensatory face turn to the left |
| HP:0031707 | Compensatory face turn to the right |
| HP:0031706 | Compensatory chin depression |
| HP:0031701 | Anterior chamber inflammatory cells |
| HP:0031700 | Invasive parasitic infection |
| HP:0031702 | Anterior chamber red blood cells |
| HP:0006702 | Coronary artery dissection |
| HP:0006719 | Benign gastrointestinal tract tumors |
| HP:0006717 | Peripheral neuroepithelioma |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles |
| HP:0000889 | Abnormality of the clavicle |
| HP:0006716 | Hereditary nonpolyposis colorectal carcinoma |
| HP:0006715 | Glomus tympanicum paraganglioma |
| HP:0006714 | Aplasia/Hypoplasia of the sternum |
| HP:0006713 | Aplasia/Hypoplasia of the scapulae |
| HP:0006729 | Retroperitoneal chemodectomas |
| http://purl.obolibrary.org/obo/CHEBI_62488 | signalling molecule |
| HP:0006723 | Intestinal carcinoid |
| HP:0006722 | Small intestine carcinoid |
| HP:0006727 | T-cell acute lymphoblastic leukemias |
| HP:0006721 | Acute lymphoblastic leukemia |
| HP:0006725 | Pancreatic adenocarcinoma |
| http://purl.obolibrary.org/obo/UBERON_0014452 | gustatory epithelium of tongue |
| HP:0031752 | Lateral rectus muscle overaction |
| HP:0031751 | Lateral rectus muscle underaction |
| http://purl.obolibrary.org/obo/UBERON_0014451 | tongue taste bud |
| http://purl.obolibrary.org/obo/UBERON_0014454 | visceral abdominal adipose tissue |
| http://purl.obolibrary.org/obo/UBERON_0014453 | gustatory epithelium of palate |
| http://purl.obolibrary.org/obo/UBERON_0002926 | gustatory epithelium |
| http://purl.obolibrary.org/obo/UBERON_0002478 | orbitosphenoid |
| http://purl.obolibrary.org/obo/UBERON_0015059 | orbitosphenoid endochondral element |
| http://purl.obolibrary.org/obo/CHEBI_25414 | monoatomic monocation |
| http://purl.obolibrary.org/obo/UBERON_0002474 | cerebellar peduncular complex |
| HP:0031756 | Medial rectus muscle underaction |
| http://purl.obolibrary.org/obo/UBERON_0014455 | subcutaneous abdominal adipose tissue |
| HP:0031754 | Medial rectus muscle overaction |
| HP:0031759 | Basic constant esotropia |
| HP:0031758 | Lateral rectus muscle restriction |
| HP:0031750 | Lateral rectus muscle weakness |
| HP:0031757 | Medial rectus muscle restriction |
| HP:0031753 | Medial rectus muscle weakness |
| HP:0031741 | Inferior oblique muscle underaction |
| http://purl.obolibrary.org/obo/UBERON_0014463 | cardiac ganglion |
| http://purl.obolibrary.org/obo/UBERON_0014464 | renal fat pad |
| http://purl.obolibrary.org/obo/UBERON_0002488 | helix of outer ear |
| http://purl.obolibrary.org/obo/UBERON_0002489 | coronal suture |
| http://purl.obolibrary.org/obo/UBERON_0002482 | lamellar bone |
| http://purl.obolibrary.org/obo/UBERON_0002483 | trabecular bone tissue |
| http://purl.obolibrary.org/obo/UBERON_0002485 | prostate duct |
| http://purl.obolibrary.org/obo/UBERON_0002486 | glottis |
| HP:0031745 | Superior rectus muscle overaction |
| HP:0031743 | Inferior rectus muscle overaction |
| HP:0031742 | Inferior rectus muscle underaction |
| HP:0031749 | Abnormal lateral rectus muscle physiology |
| HP:0031747 | Superior rectus muscle underaction |
| HP:0031746 | Superior rectus muscle restriction |
| HP:0031744 | Superior rectus muscle weakness |
| HP:0031730 | Axial myopia |
| http://purl.obolibrary.org/obo/UBERON_0002498 | deltopectoral crest |
| http://purl.obolibrary.org/obo/UBERON_0002499 | cochlear labyrinth |
| HP:0004180 | Short distal phalanx of the 3rd finger |
| HP:0009421 | Aplasia/Hypoplasia of the distal phalanx of the 3rd finger |
| HP:0009447 | Aplasia/Hypoplasia of the phalanges of the 3rd finger |
| HP:0009461 | Short 3rd finger |
| HP:0009318 | Aplasia/Hypoplasia of the 3rd finger |
| http://purl.obolibrary.org/obo/UBERON_0002490 | frontal suture |
| http://purl.obolibrary.org/obo/UBERON_0002491 | lambdoid suture |
| http://purl.obolibrary.org/obo/UBERON_0002492 | sagittal suture |
| http://purl.obolibrary.org/obo/UBERON_0002497 | acromion |
| http://purl.obolibrary.org/obo/UBERON_0014478 | rib skeletal system |
| HP:0031734 | Lacrimal pump failure |
| HP:0031733 | Reflex tearing |
| http://purl.obolibrary.org/obo/UBERON_0014477 | thoracic skeleton |
| HP:0031732 | Increased basal tear production |
| HP:0031731 | Increased tear production |
| HP:0031738 | Mechanical entropion |
| HP:0031737 | Cicatricial entropion |
| HP:0031736 | Involutional entropion |
| http://purl.obolibrary.org/obo/PR_P05533 | lymphocyte antigen 6A-2/6E-1 (mouse) |
| http://purl.obolibrary.org/obo/PR_P05532 | mast/stem cell growth factor receptor Kit (mouse) |
| HP:0031729 | Moderate hypermetropia |
| HP:0031728 | Mild hypermetropia |
| HP:0031723 | Secondary esotropia |
| HP:0031722 | Near esotropia |
| HP:0031721 | Sensory exotropia |
| HP:0031720 | Simulated distance exotropia |
| HP:0031714 | Distance exotropia |
| HP:0031727 | Excyclotropia |
| HP:0031726 | Incyclotropia |
| HP:0031792 | Irregular astigmatism |
| HP:0031791 | Lenticular astigmatism |
| HP:0031790 | Mixed astigmatism |
| HP:0031794 | Decreased circulating glycerol level |
| HP:0031793 | Increased serum leptin |
| http://purl.obolibrary.org/obo/UBERON_0002435 | striatum |
| HP:0006770 | Clear cell renal cell carcinoma |
| HP:0004112 | Midline nasal groove |
| HP:0006774 | Ovarian papillary adenocarcinoma |
| HP:0006773 | Cutaneous angiolipomas |
| HP:0006772 | Renal angiomyolipoma |
| HP:0008696 | Renal hamartoma |
| HP:0006771 | Duodenal adenocarcinoma |
| HP:0006778 | Benign genitourinary tract neoplasm |
| http://purl.obolibrary.org/obo/UBERON_0014411 | greater sciatic notch |
| HP:0031799 | Decreased apolipoprotein AI level |
| HP:0031798 | Elevated apolipoprotein B level |
| HP:0006775 | Multiple myeloma |
| http://purl.obolibrary.org/obo/GO_0070469 | respirasome |
| HP:0006779 | Alveolar rhabdomyosarcoma |
| HP:0031781 | Microtropia with identity |
| HP:0031780 | Eosinophilic ascites |
| HP:0031783 | Absent coronary sinus |
| HP:0031782 | Microtropia without identity |
| HP:0031724 | Microtropia |
| http://purl.obolibrary.org/obo/UBERON_0002443 | choroidal blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0002445 | ulnare |
| http://purl.obolibrary.org/obo/UBERON_0002446 | patella |
| HP:0006781 | Hurthle cell thyroid adenoma |
| HP:0006780 | Parathyroid carcinoma |
| HP:0100733 | Neoplasm of the parathyroid gland |
| HP:0006785 | Limb-girdle muscular dystrophy |
| HP:0006784 | Paranasal sinus hypoplasia |
| HP:0006783 | Posterior pharyngeal cleft |
| http://purl.obolibrary.org/obo/UBERON_0002442 | axillary nerve trunk |
| HP:0006782 | Malignant eosinophil proliferation |
| HP:0031789 | Against the rule astigmatism |
| HP:0006789 | Mitochondrial encephalopathy |
| HP:0031788 | With the rule astigmatism |
| HP:0031787 | Oblique astigmatism |
| HP:0031786 | Cogan lid twitch |
| HP:0031770 | Epicanthus palpebralis |
| HP:0031774 | Posterior communicating artery infundibulum |
| http://purl.obolibrary.org/obo/UBERON_0014430 | sciatic notch |
| HP:0031773 | Posterior communicating artery aneurysm |
| HP:0031772 | Abnormal posterior circulating artery morphology |
| HP:0012518 | Abnormal circle of Willis morphology |
| HP:0031771 | Epicanthus tarsalis |
| http://purl.obolibrary.org/obo/UBERON_0002456 | internal thoracic artery |
| http://purl.obolibrary.org/obo/UBERON_0002457 | intersomitic artery |
| http://purl.obolibrary.org/obo/UBERON_0014907 | intersomitic vessel |
| http://purl.obolibrary.org/obo/UBERON_0002459 | inferior palpebral vein |
| http://purl.obolibrary.org/obo/UBERON_0014769 | palpebral vein |
| http://www.informatics.jax.org/marker/MGI:88476 | Cp (mouse) |
| HP:0004132 | Dimple on nasal tip |
| http://purl.obolibrary.org/obo/CHEBI_50404 | lipoprotein cholesterol |
| HP:0006790 | Cerebral cortex with spongiform changes |
| http://purl.obolibrary.org/obo/UBERON_0002451 | endometrial gland |
| HP:0006794 | Loss of ability to walk in first decade |
| http://purl.obolibrary.org/obo/UBERON_0002453 | ethmoid sinus |
| HP:0031778 | Incyclophoria |
| HP:0006799 | Basal ganglia cysts |
| HP:0031776 | Cyclotropia |
| HP:0031775 | Neurogenic strabismus |
| http://purl.obolibrary.org/obo/UBERON_0014438 | superior pubic ramus |
| http://purl.obolibrary.org/obo/UBERON_0014437 | iliac crest |
| http://purl.obolibrary.org/obo/UBERON_0014439 | inferior pubic ramus |
| HP:0031779 | Excyclophoria |
| HP:0031777 | Cyclophoria |
| HP:0031763 | Cyclic esotropia |
| HP:0031762 | Distance esotropia |
| HP:0031761 | Infantile constant esotropia |
| HP:0031760 | Non-accomodative esotropia |
| http://purl.obolibrary.org/obo/UBERON_0002465 | lymphoid system |
| http://purl.obolibrary.org/obo/UBERON_0002466 | intestine secretion |
| http://purl.obolibrary.org/obo/UBERON_0002469 | esophagus mucosa |
| http://purl.obolibrary.org/obo/UBERON_0002463 | muscle of posterior compartment of hindlimb stylopod |
| http://purl.obolibrary.org/obo/UBERON_0014445 | acetabular fossa |
| HP:0031767 | Consecutive esotropia |
| http://purl.obolibrary.org/obo/GO_0070455 | positive regulation of heme biosynthetic process |
| http://purl.obolibrary.org/obo/UBERON_0014444 | pubic ramus |
| HP:0031766 | Convergence excess esotropia |
| http://purl.obolibrary.org/obo/GO_0070454 | negative regulation of heme biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0070453 | regulation of heme biosynthetic process |
| HP:0031765 | Partially accomodative esotropia |
| http://purl.obolibrary.org/obo/UBERON_0014446 | acetabular notch |
| HP:0031764 | Fully accomodative esotropia |
| HP:0031769 | Peripheral fixation |
| HP:0031768 | Parafoveal fixation |
| http://purl.obolibrary.org/obo/UBERON_0002408 | parietal serous pericardium |
| http://purl.obolibrary.org/obo/UBERON_0002409 | pericardial fluid |
| http://purl.obolibrary.org/obo/UBERON_0002400 | parietal pleura |
| http://purl.obolibrary.org/obo/UBERON_0002401 | visceral pleura |
| http://purl.obolibrary.org/obo/UBERON_0002402 | pleural cavity |
| http://purl.obolibrary.org/obo/UBERON_0002405 | immune system |
| http://purl.obolibrary.org/obo/UBERON_0002406 | pericardial sac |
| HP:0031693 | Severe Epstein Barr virus infection |
| HP:0031692 | Severe cytomegalovirus infection |
| HP:0031697 | Disseminated infection with live vaccine virus |
| HP:0031696 | Disseminated viral infection |
| HP:0031695 | Severe parainfluenza infection |
| HP:0031694 | Severe adenovirus infection |
| http://purl.obolibrary.org/obo/UBERON_0002410 | autonomic nervous system |
| http://purl.obolibrary.org/obo/UBERON_0002411 | clitoris |
| http://purl.obolibrary.org/obo/UBERON_0002415 | tail |
| http://purl.obolibrary.org/obo/UBERON_0002416 | integumental system |
| http://purl.obolibrary.org/obo/UBERON_0002417 | abdominal segment of trunk |
| HP:0031699 | Disseminated cryptosporidium infection |
| HP:0031698 | Disseminated Bacillus Calmette-Guerin infection |
| HP:0031682 | Type V atherosclerotic lesion |
| http://purl.obolibrary.org/obo/UBERON_0002429 | cervical lymph node |
| HP:0031681 | Type III atherosclerotic lesion |
| HP:0031680 | Type II atherosclerotic lesion |
| HP:0031686 | Increased stool alpha1-antitrypsin concentration |
| HP:0031684 | Renal artery atherosclerosis |
| HP:0031683 | Type VI atherosclerotic lesion |
| HP:0031678 | Atherosclerotic lesion |
| http://purl.obolibrary.org/obo/UBERON_0002421 | hippocampal formation |
| http://purl.obolibrary.org/obo/UBERON_0002422 | fourth ventricle |
| http://purl.obolibrary.org/obo/UBERON_0002423 | hepatobiliary system |
| http://purl.obolibrary.org/obo/UBERON_0002425 | visceral serous pericardium |
| http://purl.obolibrary.org/obo/UBERON_0002426 | chest muscle |
| http://purl.obolibrary.org/obo/UBERON_0002420 | basal ganglion |
| http://purl.obolibrary.org/obo/UBERON_0014401 | renal venous blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0014400 | hepatic sinusoidal space |
| HP:0031689 | Megakaryocyte dysplasia |
| HP:0031688 | Erythroid dysplasia |
| HP:0031687 | Abnormally loud pulmonic component of the second heart sound |
| HP:0031661 | Abnormal second heart sound |
| http://purl.obolibrary.org/obo/PR_P05555 | integrin alpha-M (mouse) |
| http://purl.obolibrary.org/obo/GO_0008455 | Addition of a GlcNAc on the alpha 1,4 branch by MGAT2 |
| http://purl.obolibrary.org/obo/GO_0008375 | A4GNT transfers GlcNAc to core 2 mucins |
| http://purl.obolibrary.org/obo/GO_0008194 | UDP-glycosyltransferase activity |
| http://purl.obolibrary.org/obo/GO_0008482 | Sulfite is oxidized to sulfate |
| http://purl.obolibrary.org/obo/GO_0008483 | Transamination of MOB to methionine |
| HP:0041049 | Starch intolerance |
| HP:0041048 | Decreased expression of GPI-anchored proteins on the cell surface |
| HP:0041045 | Increased neutrophil mitochondria |
| HP:0004099 | Macrodactyly |
| HP:0041044 | Low neutrophil alkaline phosphatase |
| HP:0041047 | Bladder outlet obstruction |
| HP:0041046 | Increased neutrophil ribosomes |
| HP:0041043 | Neutrophil nuclear clefts |
| HP:0041042 | Absent neutrophil lactoferrin |
| HP:0012551 | Absent neutrophil specific granules |
| http://purl.obolibrary.org/obo/PR_P17542 | PR:P17542 located_in GO:0005654 |
| HP:0041051 | Ageusia |
| HP:0000223 | Abnormality of taste sensation |
| HP:0041050 | Renal tubular cyst |
| http://purl.obolibrary.org/obo/PR_Q13445 | transmembrane emp24 domain-containing protein 1 (human) |
| HP:0006851 | Symmetric spinal nerve root neurofibromas |
| HP:0006850 | Hypoplasia of the ventral pons |
| http://purl.obolibrary.org/obo/UBERON_0026386 | lumbar spinal cord white matter |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0006852 | Episodic generalized hypotonia |
| HP:0006859 | Posterior leukoencephalopathy |
| HP:0006858 | Impaired distal proprioception |
| http://purl.obolibrary.org/obo/CHEBI_59132 | antigen |
| HP:0006865 | Sensorimotor polyneuropathy affecting arms more than legs |
| HP:0006863 | Severe expressive language delay |
| http://purl.obolibrary.org/obo/CHEBI_35195 | surfactant |
| HP:0006873 | Symmetrical progressive peripheral demyelination |
| HP:0006870 | Lobar holoprosencephaly |
| HP:0004216 | Osteolytic defects of the phalanges of the 5th finger |
| HP:0004218 | Symphalangism of the 5th finger |
| HP:0006879 | Pontocerebellar atrophy |
| http://www.informatics.jax.org/marker/MGI:1333815 | Cx3cr1 (mouse) |
| HP:0006880 | Cerebellar hemangioblastoma |
| HP:0004220 | Short middle phalanx of the 5th finger |
| HP:0009161 | Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
| HP:0009370 | Type A brachydactyly |
| HP:0004222 | Cone-shaped epiphysis of the distal phalanx of the 5th finger |
| HP:0009384 | Cone-shaped epiphyses of the 5th finger |
| HP:0006882 | Severe hydrocephalus |
| HP:0006881 | Diffuse peripheral demyelination |
| HP:0006888 | Meningoencephalocele |
| HP:0004227 | Short distal phalanx of the 5th finger |
| HP:0009239 | Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
| HP:0009376 | Aplasia/Hypoplasia of the phalanges of the 5th finger |
| HP:0009237 | Short 5th finger |
| HP:0006262 | Aplasia/Hypoplasia of the 5th finger |
| HP:0006887 | Intellectual disability, progressive |
| HP:0004223 | Ivory epiphysis of the distal phalanx of the 5th finger |
| HP:0009388 | Ivory epiphyses of the 5th finger |
| HP:0100921 | Sclerosis of 5th finger phalanx |
| HP:0004224 | Abnormality of the epiphysis of the middle phalanx of the 5th finger |
| HP:0004226 | Curved distal phalanx of the 5th finger |
| HP:0004214 | Curved phalanges of the 5th finger |
| HP:0006889 | Intellectual disability, borderline |
| http://purl.obolibrary.org/obo/UBERON_0014371 | future telencephalon |
| HP:0006818 | 4-layered lissencephaly |
| http://purl.obolibrary.org/obo/CHEBI_59163 | biomarker |
| http://purl.obolibrary.org/obo/CHEBI_47867 | indicator |
| http://purl.obolibrary.org/obo/UBERON_0014376 | thenar muscle |
| http://purl.obolibrary.org/obo/GO_0055127 | vibrational conductance of sound to the inner ear |
| http://purl.obolibrary.org/obo/UBERON_0002391 | lymph |
| http://purl.obolibrary.org/obo/UBERON_0002392 | nasolacrimal duct |
| http://purl.obolibrary.org/obo/UBERON_0002393 | pharyngotympanic tube |
| http://purl.obolibrary.org/obo/UBERON_0002395 | talus |
| http://purl.obolibrary.org/obo/UBERON_0002396 | vomer |
| http://purl.obolibrary.org/obo/UBERON_0002397 | maxilla |
| http://purl.obolibrary.org/obo/UBERON_0002398 | manus |
| HP:0031833 | Hypometric upward saccades |
| HP:0031832 | Hypermetric downward saccades |
| HP:0031831 | Decreased serum zinc |
| HP:0031830 | Pinguecula |
| HP:0031837 | Decreased superoxide dismutase level |
| HP:0031836 | Increased superoxide dismutase level |
| HP:0031835 | Abnormal superoxide dismutase level |
| HP:0006812 | White mater abnormalities in the posterior periventricular region |
| HP:0031834 | Aortopulmonary collateral arteries |
| http://purl.obolibrary.org/obo/UBERON_0002390 | hematopoietic system |
| http://purl.obolibrary.org/obo/UBERON_0014382 | collection of hairs on head or neck |
| HP:0006829 | Severe muscular hypotonia |
| http://purl.obolibrary.org/obo/UBERON_0014381 | whorl of hair |
| http://purl.obolibrary.org/obo/UBERON_0010164 | collection of hairs |
| http://purl.obolibrary.org/obo/CHEBI_59174 | hapten |
| http://purl.obolibrary.org/obo/UBERON_0014386 | vertebral endplate |
| http://purl.obolibrary.org/obo/GO_0043143 | regulation of translation by machinery localization |
| http://purl.obolibrary.org/obo/UBERON_0014385 | aryepiglottic fold |
| http://purl.obolibrary.org/obo/UBERON_0014388 | kidney collecting duct epithelium |
| http://purl.obolibrary.org/obo/GO_0055118 | negative regulation of cardiac muscle contraction |
| http://purl.obolibrary.org/obo/GO_0055117 | regulation of cardiac muscle contraction |
| HP:0031829 | Absent cremaster reflex |
| HP:0031827 | Absent abdominal reflex |
| HP:0031822 | Elevated hypoxanthine-guanine phosphoribosyltransferase level |
| http://purl.obolibrary.org/obo/UBERON_0014389 | gustatory papilla of tongue |
| HP:0006821 | Frontal polymicrogyria |
| HP:0031820 | Decreased waist to hip ratio |
| HP:0031825 | Freezing of gait |
| HP:0006825 | Pallor of dorsal columns of the spinal cord |
| HP:0031824 | Hepatic mastocytosis |
| HP:0031823 | Reduced hypoxanthine-guanine phosphoribosyltransferase level |
| HP:0031821 | Abnormal hypoxanthine-guanine phosphoribosyltransferase level |
| http://purl.obolibrary.org/obo/UBERON_0014393 | sweat of axilla |
| http://purl.obolibrary.org/obo/UBERON_0014392 | sweat of palm |
| http://purl.obolibrary.org/obo/UBERON_0014394 | uterine fat pad |
| http://purl.obolibrary.org/obo/UBERON_0014399 | sinusoidal space |
| http://purl.obolibrary.org/obo/UBERON_0010161 | lumen of blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0014398 | respiratory muscle |
| http://purl.obolibrary.org/obo/UBERON_0014391 | palmar/plantar sweat gland |
| http://purl.obolibrary.org/obo/UBERON_0000423 | eccrine sweat gland |
| http://purl.obolibrary.org/obo/UBERON_0014390 | muscle layer of ileum |
| HP:0031819 | Increased waist to hip ratio |
| HP:0031818 | Abnormal waist to hip ratio |
| HP:0031817 | Decreased circulating parathyroid hormone level |
| HP:0031811 | Bilirubinuria |
| HP:0031810 | Anti-ganglioside antibody positivity |
| HP:0006837 | Congenital Horner syndrome |
| HP:0002277 | Horner syndrome |
| HP:0031814 | Palilalia |
| HP:0031813 | Colonic eosinophilia |
| HP:0031812 | Nitrituria |
| HP:0006834 | Developmental stagnation at onset of seizures |
| HP:0006849 | Hypodysplasia of the corpus callosum |
| http://purl.obolibrary.org/obo/GO_0045780 | positive regulation of bone resorption |
| HP:0031808 | Decreased basophil count |
| HP:0031807 | Increased basophil count |
| HP:0031806 | Abnormal basophil count |
| HP:0031809 | Archibald's sign |
| HP:0006844 | Absent patellar reflexes |
| HP:0031800 | Elevated apolipoprotein A-II level |
| HP:0031804 | Premacular hemorrhage |
| http://purl.obolibrary.org/obo/GO_0045779 | negative regulation of bone resorption |
| http://purl.obolibrary.org/obo/GO_0045124 | regulation of bone resorption |
| http://purl.obolibrary.org/obo/CHEBI_23117 | chlorine molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_23116 | chlorine atom |
| HP:0031873 | Early chronotype |
| HP:0031872 | Absent Birbeck granules in Langerhans cells |
| HP:0031871 | Abnormal Langerhans cell morphology |
| HP:0031870 | Phosphohydroxylysinuria |
| http://www.informatics.jax.org/marker/MGI:88338 | Cd44 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0002355 | pelvic region of trunk |
| http://www.informatics.jax.org/marker/MGI:88337 | Cd40lg (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0002356 | perineum |
| http://purl.obolibrary.org/obo/UBERON_0002357 | serous pericardium |
| http://www.informatics.jax.org/marker/MGI:88335 | Cd4 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0002359 | fibrous pericardium |
| http://www.informatics.jax.org/marker/MGI:88332 | Cd3e (mouse) |
| HP:0004274 | Deficient ossification of hand bones |
| HP:0004276 | Exostoses of hand bones |
| http://purl.obolibrary.org/obo/UBERON_0002350 | conducting system of heart |
| HP:0004271 | Cortical thickening of hand bones |
| http://purl.obolibrary.org/obo/UBERON_0002352 | atrioventricular node |
| http://purl.obolibrary.org/obo/UBERON_0010131 | conducting tissue of heart |
| HP:0004272 | Cortical thinning of hand bones |
| http://www.informatics.jax.org/marker/MGI:88329 | Cd34 (mouse) |
| HP:0004273 | Cupped metaphyses of hand bones |
| HP:0031877 | Elevated hepcidin level |
| HP:0031876 | Decreased hepcidin level |
| HP:0031875 | Abnormal hepcidin level |
| HP:0031874 | Late chronotype |
| HP:0004279 | Short palm |
| HP:0031878 | Acromicria |
| HP:0031862 | Increased heart rate variability |
| HP:0031861 | Decreased heart rate variability |
| HP:0031860 | Abnormal heart rate variability |
| http://www.informatics.jax.org/marker/MGI:88326 | Cd27 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0002367 | prostate gland |
| http://purl.obolibrary.org/obo/UBERON_0010147 | male accessory sex gland |
| HP:0004290 | Sclerosis of hand bones with transverse striations |
| HP:0004291 | Stippled calcification of hand bones |
| HP:0004280 | Irregular ossification of hand bones |
| http://www.informatics.jax.org/marker/MGI:88323 | Cd24a (mouse) |
| http://www.informatics.jax.org/marker/MGI:88321 | Ms4a1 (mouse) |
| http://www.informatics.jax.org/marker/MGI:88320 | Cd2 (mouse) |
| HP:0004285 | Overmodelled hand bones |
| HP:0004287 | Pointed hand bones |
| http://www.informatics.jax.org/marker/MGI:88319 | Cd19 (mouse) |
| HP:0004283 | Narrow palm |
| http://purl.obolibrary.org/obo/UBERON_0002364 | tympanic membrane |
| http://www.informatics.jax.org/marker/MGI:88318 | Cd14 (mouse) |
| HP:0004284 | Notched hand bones |
| HP:0031866 | Clasp-knife sign |
| HP:0031864 | Bacteremia |
| HP:0004289 | Sclerotic foci in hand bones |
| HP:0031868 | Optic ataxia |
| HP:0031867 | Neck hypertonia |
| HP:0031851 | Reduced hematocrit |
| http://purl.obolibrary.org/obo/CHEBI_25798 | oxopentanoates |
| http://purl.obolibrary.org/obo/CHEBI_59836 | oxo fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_25799 | oxopentanoic acid |
| http://purl.obolibrary.org/obo/CHEBI_59644 | oxo fatty acid |
| HP:0004296 | Abnormality of gastrointestinal vasculature |
| http://purl.obolibrary.org/obo/UBERON_0002370 | thymus |
| http://purl.obolibrary.org/obo/UBERON_0005058 | hemolymphoid system gland |
| http://purl.obolibrary.org/obo/UBERON_0002371 | bone marrow |
| HP:0004292 | Undermodelled hand bones |
| HP:0004293 | Synostosis of second metacarpal-trapezoid |
| http://purl.obolibrary.org/obo/UBERON_0002375 | cricoid cartilage |
| HP:0031858 | Esophageal furrows |
| http://purl.obolibrary.org/obo/CHEBI_84125 | globoside Gb4 |
| HP:0031857 | Ineffective esophageal peristalsis |
| HP:0100771 | Hypoperistalsis |
| HP:0031856 | Hobby horse gait |
| http://purl.obolibrary.org/obo/PR_000049996 | active alpha-amylase isozyme (human) |
| http://purl.obolibrary.org/obo/PR_000049995 | active alpha-amylase isozyme |
| http://purl.obolibrary.org/obo/UBERON_0002380 | trapezius muscle |
| http://purl.obolibrary.org/obo/UBERON_0002381 | pectoralis major |
| http://purl.obolibrary.org/obo/UBERON_0002382 | rectus abdominis muscle |
| HP:0031849 | Sleep-wake inversion |
| http://purl.obolibrary.org/obo/UBERON_0002386 | forelimb zeugopod |
| http://purl.obolibrary.org/obo/UBERON_0002387 | pes |
| http://purl.obolibrary.org/obo/UBERON_0002470 | autopod region |
| HP:0031844 | Euphoria |
| HP:0031843 | Bradyphrenia |
| http://purl.obolibrary.org/obo/CHEBI_84118 | ganglioside GM3 |
| http://purl.obolibrary.org/obo/CHEBI_15681 | alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide |
| HP:0031841 | Positive urine methadone test |
| HP:0031848 | Cock-walk gait |
| HP:0031847 | Difficulty walking backward |
| HP:0031846 | Femur fracture |
| http://purl.obolibrary.org/obo/UBERON_0002319 | mesangium |
| http://purl.obolibrary.org/obo/UBERON_0002315 | gray matter of spinal cord |
| http://purl.obolibrary.org/obo/CHEBI_74783 | astringent |
| http://purl.obolibrary.org/obo/UBERON_0002317 | white matter of cerebellum |
| HP:0004230 | Subluxation of the proximal interphalangeal joint of the little finger |
| HP:0006891 | Thick cerebral cortex |
| http://purl.obolibrary.org/obo/CHEBI_50748 | antipsoriatic |
| http://purl.obolibrary.org/obo/CHEBI_50177 | dermatologic drug |
| http://purl.obolibrary.org/obo/CHEBI_50745 | progestogen |
| http://purl.obolibrary.org/obo/CHEBI_50112 | sex hormone |
| HP:0004233 | Advanced ossification of carpal bones |
| HP:0004051 | Advanced ossification of the hand bones |
| HP:0006895 | Lower limb hypertonia |
| HP:0002509 | Limb hypertonia |
| HP:0006894 | Hypoplastic olfactory lobes |
| HP:0006893 | Severely dysplastic cerebellum |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0006899 | Fusion of the cerebellar hemispheres |
| HP:0004238 | Lytic defects of carpal bones |
| HP:0006897 | Cranial nerve VI palsy |
| HP:0006896 | Hypnopompic hallucinations |
| http://purl.obolibrary.org/obo/CHEBI_37793 | amino sulfonic acid |
| http://purl.obolibrary.org/obo/CHEBI_33551 | organosulfonic acid |
| http://purl.obolibrary.org/obo/CHEBI_33552 | sulfonic acid derivative |
| HP:0004234 | Bone-in-a-bone appearance of carpal bones |
| HP:0004236 | Irregular carpal bones |
| http://purl.obolibrary.org/obo/UBERON_0004988 | mucosa of cystic duct |
| http://purl.obolibrary.org/obo/GO_0080154 | regulation of fertilization |
| http://purl.obolibrary.org/obo/UBERON_0004986 | mucosa of deferent duct |
| http://purl.obolibrary.org/obo/UBERON_0004985 | mucosa of ejaculatory duct |
| http://purl.obolibrary.org/obo/UBERON_0004984 | mucosa of seminal vesicle |
| http://purl.obolibrary.org/obo/UBERON_0002326 | lamina propria of urethra |
| http://purl.obolibrary.org/obo/UBERON_0002327 | trunk of intercostal nerve |
| http://purl.obolibrary.org/obo/UBERON_0002328 | notochord |
| http://purl.obolibrary.org/obo/UBERON_0002329 | somite |
| HP:0004241 | Stippled calcification in carpal bones |
| HP:0004244 | Accessory scaphoid |
| HP:0004240 | Sclerotic foci within carpal bones |
| HP:0009164 | Abnormal calcification of the carpal bones |
| HP:0004249 | Accessory lunate |
| HP:0004232 | Accessory carpal bones |
| http://purl.obolibrary.org/obo/UBERON_0004983 | mucosa of vagina |
| http://purl.obolibrary.org/obo/UBERON_0004982 | mucosa of epiglottis |
| http://purl.obolibrary.org/obo/UBERON_0004987 | mucosa of laryngopharynx |
| http://purl.obolibrary.org/obo/UBERON_0000355 | pharyngeal mucosa |
| http://purl.obolibrary.org/obo/UBERON_0004980 | mucosa of ureter |
| HP:0004245 | Comma-shaped scaphoid |
| HP:0004235 | Comma-shaped carpal bones |
| HP:0004246 | Delayed ossification of the scaphoid |
| HP:0004247 | Small scaphoid |
| http://purl.obolibrary.org/obo/CHEBI_37786 | acyclic phosphorus acid anhydride |
| HP:0031891 | Decreased eosinophil count |
| HP:0031890 | Increased urine urobilinogen |
| http://purl.obolibrary.org/obo/UBERON_0004999 | mucosa of biliary tree |
| http://purl.obolibrary.org/obo/PR_000047388 | PR:000047388 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/UBERON_0004997 | mucosa of pyloric antrum |
| http://purl.obolibrary.org/obo/UBERON_0004998 | mucosa of pylorus |
| http://purl.obolibrary.org/obo/UBERON_0004995 | mucosa of body of stomach |
| http://purl.obolibrary.org/obo/UBERON_0002333 | pulmonary trunk |
| http://purl.obolibrary.org/obo/UBERON_0002334 | submandibular duct |
| http://purl.obolibrary.org/obo/PR_000047381 | PR:000047381 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_000019856 | high affinity immunoglobulin epsilon receptor subunit alpha, signal peptide removed form |
| http://purl.obolibrary.org/obo/UBERON_0002336 | corpus callosum |
| http://purl.obolibrary.org/obo/UBERON_0002473 | intercerebral commissure |
| http://purl.obolibrary.org/obo/UBERON_0005340 | dorsal telencephalic commissure |
| http://purl.obolibrary.org/obo/UBERON_0019294 | commissure of telencephalon |
| http://purl.obolibrary.org/obo/UBERON_0002337 | endometrial stroma |
| http://purl.obolibrary.org/obo/UBERON_0002338 | lamina propria of bronchus |
| http://purl.obolibrary.org/obo/UBERON_0000031 | lamina propria of trachea |
| HP:0004253 | Absent trapezium |
| HP:0004254 | Delayed ossification of the trapezium |
| HP:0004255 | Small trapezium |
| http://purl.obolibrary.org/obo/UBERON_0002330 | exocrine system |
| HP:0004250 | Proximally placed lunate |
| HP:0004239 | Proximally placed carpal bones |
| http://purl.obolibrary.org/obo/UBERON_0002331 | umbilical cord |
| HP:0004251 | Lunate-triquetral fusion |
| HP:0031898 | Rouleaux formation |
| http://purl.obolibrary.org/obo/UBERON_0004993 | mucosa of sigmoid colon |
| http://purl.obolibrary.org/obo/UBERON_0004992 | mucosa of descending colon |
| http://purl.obolibrary.org/obo/UBERON_0000317 | colonic mucosa |
| HP:0004257 | Delayed ossification of the trapezoid bone |
| HP:0004258 | Small trapezoid bone |
| http://www.informatics.jax.org/marker/MGI:88340 | Cd5 (mouse) |
| HP:0031883 | Increased proinsulin:insulin ratio |
| HP:0031882 | Agyria |
| HP:0031881 | Decreased tear drainage |
| http://purl.obolibrary.org/obo/UBERON_0002345 | descending thoracic aorta |
| http://www.informatics.jax.org/marker/MGI:88348 | Cd9 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0002346 | neurectoderm |
| http://www.informatics.jax.org/marker/MGI:88347 | Cd8b1 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0002347 | thoracic vertebra |
| http://www.informatics.jax.org/marker/MGI:88346 | Cd8a (mouse) |
| http://www.informatics.jax.org/marker/MGI:88344 | Cd7 (mouse) |
| http://www.informatics.jax.org/marker/MGI:88343 | Cd69 (mouse) |
| http://www.informatics.jax.org/marker/MGI:88342 | Cd68 (mouse) |
| HP:0004263 | Large capitate bone |
| HP:0004264 | Narrow carpal joint spaces |
| HP:0004261 | Wide hamate bone |
| HP:0004260 | Large hamate bone |
| HP:0004242 | Broad carpal bones |
| HP:0004237 | Large carpal bones |
| HP:0006014 | Abnormally shaped carpal bones |
| http://purl.obolibrary.org/obo/UBERON_0002343 | abdomen musculature |
| http://www.informatics.jax.org/marker/MGI:88339 | Cd48 (mouse) |
| HP:0031887 | Abnormal chylomicron concentration |
| http://purl.obolibrary.org/obo/CHEBI_62761 | tyrosine derivative |
| HP:0031885 | Hyperglycorrhachia |
| HP:0031884 | Abnormal CSF glucose level |
| HP:0004267 | Narrow small joints of the hand |
| HP:0004268 | Osteoarthritis of the small joints of the hand |
| http://purl.obolibrary.org/obo/CHEBI_35143 | hemoglobin |
| HP:0004269 | Subluxation of the small joints of the hand |
| http://purl.obolibrary.org/obo/UBERON_0004936 | submucosa of pyloric antrum |
| http://purl.obolibrary.org/obo/UBERON_0004934 | submucosa of body of stomach |
| http://purl.obolibrary.org/obo/UBERON_0004932 | submucosa of sigmoid colon |
| http://purl.obolibrary.org/obo/UBERON_0004931 | submucosa of descending colon |
| http://purl.obolibrary.org/obo/UBERON_0004939 | submucosa of common bile duct |
| http://purl.obolibrary.org/obo/UBERON_0004937 | submucosa of pylorus |
| http://purl.obolibrary.org/obo/UBERON_0016912 | frenulum of upper lip |
| http://purl.obolibrary.org/obo/UBERON_0005031 | mucosa of upper lip |
| http://purl.obolibrary.org/obo/UBERON_0016913 | frenulum of lower lip |
| http://purl.obolibrary.org/obo/UBERON_0016910 | frenulum of lip |
| http://purl.obolibrary.org/obo/UBERON_0005032 | mucosa of lower lip |
| http://purl.obolibrary.org/obo/UBERON_0036294 | mucosa of lip |
| http://purl.obolibrary.org/obo/UBERON_0004946 | submucosa of ileum |
| http://purl.obolibrary.org/obo/UBERON_0004945 | submucosa of neck of urinary bladder |
| HP:0100041 | Broad 3rd toe |
| http://purl.obolibrary.org/obo/UBERON_0004943 | submucosa of urinary bladder |
| http://purl.obolibrary.org/obo/UBERON_0004942 | submucosa of left hepatic duct |
| HP:0100040 | Broad 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0004941 | submucosa of right hepatic duct |
| HP:0100043 | Broad 5th toe |
| HP:0100042 | Broad 4th toe |
| http://purl.obolibrary.org/obo/UBERON_0004940 | submucosa of common hepatic duct |
| http://purl.obolibrary.org/obo/UBERON_0016928 | metaphysis of fibula |
| HP:0100030 | Accessory ectopic thyroid tissue |
| http://purl.obolibrary.org/obo/UBERON_0004952 | submucosa of bronchiole |
| HP:0100034 | Motor tics |
| HP:0100036 | Pseudo-fractures |
| HP:0100035 | Phonic tics |
| HP:0100033 | Tics |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10720 | SELL (human) |
| HP:0100038 | Slow-growing scalp hair |
| HP:0002217 | Slow-growing hair |
| http://purl.obolibrary.org/obo/CHEBI_84087 | human urinary metabolite |
| HP:0100020 | Posterior capsular cataract |
| HP:0100023 | Recurrent hand flapping |
| http://purl.obolibrary.org/obo/UBERON_0002301 | layer of neocortex |
| http://purl.obolibrary.org/obo/UBERON_0002302 | myocardium of atrium |
| HP:0100025 | Overfriendliness |
| HP:0100024 | Conspicuously happy disposition |
| HP:0100027 | Recurrent pancreatitis |
| HP:0100026 | Arteriovenous malformation |
| http://purl.obolibrary.org/obo/UBERON_0002305 | layer of hippocampus |
| HP:0100029 | Lingual thyroid |
| http://purl.obolibrary.org/obo/UBERON_0002307 | choroid plexus of lateral ventricle |
| HP:0100028 | Ectopic thyroid |
| HP:0100010 | Spinal meningioma |
| HP:0100011 | Scleral schwannoma |
| HP:0100014 | Epiretinal membrane |
| HP:0100015 | Stahl ear |
| HP:0100017 | Capsular cataract |
| HP:0004197 | Symphalangism of the 4th finger |
| HP:0004195 | Osteolytic defects of the phalanges of the 4th finger |
| HP:0100003 | Peritoneal mesothelioma |
| HP:0100002 | Pleural mesothelioma |
| http://purl.obolibrary.org/obo/UBERON_0004908 | upper digestive tract |
| HP:0100005 | Testicular mesothelioma |
| http://purl.obolibrary.org/obo/UBERON_0004907 | lower digestive tract |
| HP:0100004 | Pericardial mesothelioma |
| HP:0100001 | Malignant mesothelioma |
| http://purl.obolibrary.org/obo/UBERON_0004906 | ectodermal part of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0004904 | neuron projection bundle connecting eye with brain |
| HP:0100009 | Intracranial meningioma |
| HP:0100008 | Schwannoma |
| http://purl.obolibrary.org/obo/UBERON_0004914 | duodenal papilla |
| http://purl.obolibrary.org/obo/UBERON_0004913 | hepatopancreatic ampulla |
| http://purl.obolibrary.org/obo/UBERON_0004912 | biliary bud |
| http://purl.obolibrary.org/obo/UBERON_0004916 | anal sphincter |
| http://purl.obolibrary.org/obo/UBERON_0004915 | sphincter of hepatopancreatic ampulla |
| http://purl.obolibrary.org/obo/UBERON_0004925 | submucosa of laryngopharynx |
| http://purl.obolibrary.org/obo/UBERON_0004924 | submucosa of pharynx |
| http://purl.obolibrary.org/obo/UBERON_0004926 | submucosa of cystic duct |
| http://purl.obolibrary.org/obo/UBERON_0004938 | submucosa of biliary tree |
| http://purl.obolibrary.org/obo/PR_P17433 | transcription factor PU.1 (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_60073 | N-acylneuraminate |
| http://purl.obolibrary.org/obo/GO_0045760 | positive regulation of action potential |
| http://purl.obolibrary.org/obo/GO_0045759 | negative regulation of action potential |
| http://purl.obolibrary.org/obo/GO_0045745 | positive regulation of G protein-coupled receptor signaling pathway |
| http://purl.obolibrary.org/obo/GO_0045744 | negative regulation of G protein-coupled receptor signaling pathway |
| http://purl.obolibrary.org/obo/GO_0008277 | regulation of G protein-coupled receptor signaling pathway |
| HP:0006808 | Cerebral hypomyelination |
| http://purl.obolibrary.org/obo/GO_0045738 | negative regulation of DNA repair |
| http://purl.obolibrary.org/obo/GO_2001021 | negative regulation of response to DNA damage stimulus |
| http://purl.obolibrary.org/obo/GO_0045739 | positive regulation of DNA repair |
| http://purl.obolibrary.org/obo/GO_2001022 | positive regulation of response to DNA damage stimulus |
| HP:0006803 | Vivid hallucinations |
| HP:0000738 | Hallucinations |
| HP:0006802 | Abnormal anterior horn cell morphology |
| HP:0006801 | Hyperactive deep tendon reflexes |
| http://purl.obolibrary.org/obo/GO_0045729 | respiratory burst at fertilization |
| http://purl.obolibrary.org/obo/GO_0045728 | respiratory burst after phagocytosis |
| http://purl.obolibrary.org/obo/GO_0045721 | negative regulation of gluconeogenesis |
| http://purl.obolibrary.org/obo/GO_0045722 | positive regulation of gluconeogenesis |
| http://purl.obolibrary.org/obo/GO_0006111 | regulation of gluconeogenesis |
| http://purl.obolibrary.org/obo/GO_0045724 | positive regulation of cilium assembly |
| http://purl.obolibrary.org/obo/PR_000001950 | tumor necrosis factor ligand superfamily member 5 |
| http://purl.obolibrary.org/obo/PR_000001944 | transcription factor PU.1 |
| http://purl.obolibrary.org/obo/GO_0045701 | negative regulation of spermatid nuclear differentiation |
| http://purl.obolibrary.org/obo/GO_0045702 | positive regulation of spermatid nuclear differentiation |
| http://purl.obolibrary.org/obo/GO_0045700 | regulation of spermatid nuclear differentiation |
| http://purl.obolibrary.org/obo/GO_1903353 | regulation of nucleus organization |
| HP:0004319 | Decreased circulating aldosterone level |
| HP:0031917 | Digital ulcer |
| HP:0031915 | Stable |
| HP:0006970 | Periventricular leukomalacia |
| HP:0031919 | Juvenile type ovarian granulosa cell tumor |
| http://purl.obolibrary.org/obo/PR_Q13291 | signaling lymphocytic activation molecule (human) |
| HP:0006976 | Necrotizing encephalopathy |
| HP:0031914 | Fluctuating |
| HP:0031913 | Rhombencephalosynapsis |
| HP:0006979 | Sleep-wake cycle disturbance |
| HP:0031912 | Trigeminal anesthesia |
| HP:0006978 | Dysmyelinating leukodystrophy |
| HP:0031911 | Abnormal fifth cranial nerve physiology |
| HP:0006977 | Grammar-specific speech disorder |
| http://purl.obolibrary.org/obo/GO_0043062 | extracellular structure organization |
| http://purl.obolibrary.org/obo/CHEBI_50689 | reproductive control drug |
| HP:0031907 | Anti-mitochondrial M2 antibody positivity |
| HP:0031906 | Decreased total hemolytic complement activity |
| HP:0031905 | Increased total hemolytic complement activity |
| HP:0031904 | Abnormal total hemolytic complement activity |
| HP:0006983 | Slowly progressive spastic quadriparesis |
| HP:0002478 | Progressive spastic quadriplegia |
| HP:0031909 | Unicornuate uterus |
| HP:0006980 | Progressive leukoencephalopathy |
| HP:0031908 | Micrographia |
| HP:0004326 | Cachexia |
| HP:0006986 | Upper limb spasticity |
| HP:0006984 | Distal sensory loss of all modalities |
| HP:0031903 | Abnormal circulating selenium concentration |
| HP:0031902 | Decreased serum mast cell beta-tryptase concentration |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0031901 | Increased serum mast cell beta-tryptase concentration |
| HP:0006988 | Alobar holoprosencephaly |
| HP:0031900 | Abnormal serum mast cell beta-tryptase concentration |
| HP:0006990 | Myelin-dependent gliosis |
| http://purl.obolibrary.org/obo/CHEBI_47042 | hydroxycalciol |
| HP:0006994 | Diffuse leukoencephalopathy |
| http://purl.obolibrary.org/obo/UBERON_0026246 | sacral spinal cord white matter |
| http://purl.obolibrary.org/obo/UBERON_0002318 | white matter of spinal cord |
| HP:0006992 | Anterior basal encephalocele |
| http://purl.obolibrary.org/obo/UBERON_4200172 | neck of humerus |
| HP:0004333 | Bone-marrow foam cells |
| HP:0006999 | Basal ganglia gliosis |
| HP:0004336 | Myelin outfoldings |
| HP:0004344 | Abnormality of cerebrosidase metabolism |
| HP:0004347 | Weakness of muscles of respiration |
| HP:0006938 | Impaired vibration sensation at ankles |
| HP:0006886 | Impaired distal vibration sensation |
| HP:0006937 | Impaired distal tactile sensation |
| HP:0002936 | Distal sensory impairment |
| HP:0031950 | Usual interstitial pneumonia |
| http://purl.obolibrary.org/obo/UBERON_0002279 | vestibular aqueduct |
| http://purl.obolibrary.org/obo/GO_0055007 | cardiac muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0035051 | cardiocyte differentiation |
| http://purl.obolibrary.org/obo/UBERON_0002270 | hyaloid artery |
| http://purl.obolibrary.org/obo/UBERON_0005492 | hyaloid vessel |
| HP:0031959 | Leg dystonia |
| http://purl.obolibrary.org/obo/UBERON_0002275 | reticular formation |
| HP:0006932 | Transient psychotic episodes |
| HP:0000725 | Psychotic episodes |
| HP:0031954 | Dystonic gait |
| HP:0031953 | Cautious gait |
| HP:0006931 | Lipoma of corpus callosum |
| HP:0006866 | Midline central nervous system lipomas |
| HP:0031952 | Neurogenic claudication |
| HP:0006930 | Frontoparietal cortical dysplasia |
| HP:0031951 | Nocturnal seizures |
| http://purl.obolibrary.org/obo/CHEBI_60039 | L-proline zwitterion |
| HP:0031958 | Spastic paraparetic gait |
| HP:0031957 | Spastic hemiparetic gait |
| HP:0031956 | Elevated serum aspartate aminotransferase |
| HP:0031955 | Antalgic gait |
| HP:0006949 | Episodic peripheral neuropathy |
| http://purl.obolibrary.org/obo/UBERON_0002289 | midbrain cerebral aqueduct |
| HP:0031949 | Recurrent bacterial upper respiratory tract infections |
| HP:0031948 | Snowball lesion of corpus callosum |
| http://purl.obolibrary.org/obo/UBERON_0002286 | third ventricle |
| http://purl.obolibrary.org/obo/UBERON_0002288 | choroid plexus of third ventricle |
| HP:0031943 | Akathisia |
| HP:0000711 | Restlessness |
| HP:0006943 | Diffuse spongiform leukoencephalopathy |
| HP:0031942 | Congenital absence of portal vein |
| HP:0031947 | Tongue tremor |
| HP:0031946 | Elevated urinary N,N-dimethylglycine level |
| HP:0031945 | Elevated N,N-dimethylglycine level |
| HP:0031944 | Pleural thickening |
| HP:0006944 | Abolished vibration sense |
| HP:0006959 | Proximal spinal muscular atrophy |
| http://purl.obolibrary.org/obo/GO_0045671 | negative regulation of osteoclast differentiation |
| http://purl.obolibrary.org/obo/GO_0045672 | positive regulation of osteoclast differentiation |
| http://purl.obolibrary.org/obo/GO_0045670 | regulation of osteoclast differentiation |
| HP:0031939 | Conus terminalis arteriovenous malformation |
| http://purl.obolibrary.org/obo/UBERON_0002293 | costochondral joint |
| http://purl.obolibrary.org/obo/UBERON_0002294 | biliary system |
| http://purl.obolibrary.org/obo/GO_0043009 | chordate embryonic development |
| HP:0031937 | Tachylalia |
| http://purl.obolibrary.org/obo/UBERON_0002296 | dorsal mesentery |
| http://purl.obolibrary.org/obo/UBERON_0002298 | brainstem |
| HP:0031932 | Aorto-left ventricular tunnel |
| HP:0031931 | Ocular flutter |
| http://purl.obolibrary.org/obo/CHEBI_60059 | dermatan anion |
| HP:0031930 | Neurocytic rosette |
| http://purl.obolibrary.org/obo/GO_0045666 | positive regulation of neuron differentiation |
| http://purl.obolibrary.org/obo/GO_0045665 | negative regulation of neuron differentiation |
| http://purl.obolibrary.org/obo/GO_0045664 | regulation of neuron differentiation |
| HP:0006951 | Retrocerebellar cyst |
| HP:0031936 | Delayed ability to walk |
| http://purl.obolibrary.org/obo/GO_0045668 | negative regulation of osteoblast differentiation |
| HP:0006957 | Loss of ability to walk |
| HP:0031935 | Ascending aorta hypoplasia |
| HP:0031784 | Abnormal ascending aorta morphology |
| HP:0006956 | Dilation of lateral ventricles |
| http://purl.obolibrary.org/obo/UBERON_0002290 | choroid plexus of fourth ventricle |
| HP:0006955 | Olivopontocerebellar hypoplasia |
| HP:0012110 | Hypoplasia of the pons |
| HP:0031933 | Aorto-right ventricular tunnel |
| http://purl.obolibrary.org/obo/UBERON_0002291 | central canal of spinal cord |
| http://purl.obolibrary.org/obo/GO_0045669 | positive regulation of osteoblast differentiation |
| http://purl.obolibrary.org/obo/GO_0045667 | regulation of osteoblast differentiation |
| http://purl.obolibrary.org/obo/GO_0045778 | positive regulation of ossification |
| HP:0031929 | Perivascular pseudorosette |
| HP:0031928 | True ependymal rosette |
| HP:0031927 | Flexner-Wintersteiner rosette |
| HP:0031926 | Homer Wright rosette |
| HP:0006961 | Jerky head movements |
| HP:0002457 | Abnormal head movements |
| HP:0006960 | Choroid plexus calcification |
| HP:0006965 | Acute necrotizing encephalopathy |
| HP:0006846 | Acute encephalopathy |
| HP:0031921 | Gastrocnemius myalgia |
| http://purl.obolibrary.org/obo/GO_0045653 | negative regulation of megakaryocyte differentiation |
| HP:0006964 | Cerebral cortical neurodegeneration |
| HP:0031920 | Malignant ovarian granulosa cell tumor |
| HP:0006962 | Gait instability, worse in the dark |
| HP:0002317 | Unsteady gait |
| http://purl.obolibrary.org/obo/GO_0045654 | positive regulation of megakaryocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045652 | regulation of megakaryocyte differentiation |
| HP:0031925 | Rosette |
| http://purl.obolibrary.org/obo/CHEBI_60065 | alpha-N-acetylneuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-N-acylsphingosine(1-) |
| http://purl.obolibrary.org/obo/CHEBI_88071 | monosialodiglycosylceramide(1-) |
| http://purl.obolibrary.org/obo/GO_0045657 | positive regulation of monocyte differentiation |
| HP:0031924 | Rope sign |
| http://purl.obolibrary.org/obo/GO_0045656 | negative regulation of monocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045655 | regulation of monocyte differentiation |
| HP:0031923 | Hematocolpos |
| HP:0031922 | Renal artery duplication |
| HP:0031990 | Chvostek sign |
| HP:0031994 | Bronchial breath sound |
| HP:0031993 | Hoffmann sign |
| HP:0031992 | Apical hypertrophic cardiomyopathy |
| HP:0031991 | Increased urinary excretion of galactosyl hydroxylysine |
| http://purl.obolibrary.org/obo/GO_0033673 | negative regulation of kinase activity |
| http://purl.obolibrary.org/obo/GO_0031012 | extracellular matrix |
| http://purl.obolibrary.org/obo/GO_0033674 | positive regulation of kinase activity |
| http://purl.obolibrary.org/obo/UBERON_0002235 | tubercle of rib |
| http://purl.obolibrary.org/obo/UBERON_0002237 | true rib |
| http://purl.obolibrary.org/obo/UBERON_0002239 | floating rib |
| http://purl.obolibrary.org/obo/UBERON_0002238 | false rib |
| HP:0004395 | Malnutrition |
| HP:0004396 | Poor appetite |
| HP:0004392 | Prune belly |
| http://purl.obolibrary.org/obo/UBERON_0002231 | body of rib |
| HP:0004394 | Multiple gastric polyps |
| HP:0031998 | Late inspiratory crackles |
| http://purl.obolibrary.org/obo/CHEBI_37631 | beta-L-glucose |
| HP:0031997 | Early inspiratory crackles |
| HP:0031996 | Inspiratory crackles |
| HP:0031995 | Squawks |
| HP:0004399 | Congenital pyloric atresia |
| HP:0031999 | Expiratory crackles |
| http://purl.obolibrary.org/obo/UBERON_0016880 | future nervous system |
| HP:0031982 | Abnormal putamen morphology |
| HP:0031981 | Elevated urine glycolate |
| http://purl.obolibrary.org/obo/UBERON_0002245 | cerebellar hemisphere |
| http://purl.obolibrary.org/obo/CHEBI_37627 | L-glucopyranose |
| http://purl.obolibrary.org/obo/UBERON_0002240 | spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0002241 | chondrocranium |
| http://purl.obolibrary.org/obo/UBERON_0002242 | nucleus pulposus |
| http://purl.obolibrary.org/obo/UBERON_0002244 | premaxilla |
| HP:0031987 | Diminished ability to concentrate |
| HP:0031986 | Polyminimyoclonus |
| http://purl.obolibrary.org/obo/UBERON_0016887 | entire extraembryonic component |
| HP:0031985 | Esophageal exudate |
| HP:0031984 | Esophageal food impaction |
| http://purl.obolibrary.org/obo/CHEBI_37624 | L-glucose |
| HP:0031989 | Perioral spasm |
| http://purl.obolibrary.org/obo/CHEBI_23019 | carbonyl group |
| HP:0031972 | Presyncope |
| HP:0031971 | Subaortic ventricular septal bulge |
| http://purl.obolibrary.org/obo/UBERON_0002257 | ventral horn of spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0002258 | dorsal funiculus of spinal cord |
| HP:0031976 | Increased vertical cup-to-disc ratio - 0.8 |
| HP:0031975 | Increased vertical cup-to-disc ratio - 0.7 |
| HP:0031974 | Increased vertical cup-to-disc ratio - 0.6 |
| HP:0031978 | Increased vertical cup-to-disc ratio - 1.0 |
| HP:0031977 | Increased vertical cup-to-disc ratio - 0.9 |
| HP:0031973 | Increased vertical cup-to-disc ratio |
| HP:0012796 | Increased cup-to-disc ratio |
| http://purl.obolibrary.org/obo/GO_0006094 | gluconeogenesis |
| http://purl.obolibrary.org/obo/GO_0006096 | glycolytic process |
| http://purl.obolibrary.org/obo/CHEBI_49637 | hydrogen atom |
| HP:0031960 | Arm dystonia |
| HP:0002451 | Limb dystonia |
| http://purl.obolibrary.org/obo/GO_0006099 | tricarboxylic acid cycle |
| http://purl.obolibrary.org/obo/UBERON_0002268 | olfactory organ |
| http://purl.obolibrary.org/obo/GO_0031049 | programmed DNA elimination |
| http://purl.obolibrary.org/obo/CHEBI_23004 | carbamoyl group |
| http://purl.obolibrary.org/obo/CHEBI_27207 | univalent carboacyl group |
| http://purl.obolibrary.org/obo/UBERON_0002263 | lentiform nucleus |
| http://purl.obolibrary.org/obo/GO_0031052 | chromosome breakage |
| http://purl.obolibrary.org/obo/UBERON_0002264 | olfactory bulb |
| HP:0031965 | Increased RBC distribution width |
| HP:0031964 | Elevated serum alanine aminotransferase |
| HP:0031963 | Decreased serum anion gap |
| HP:0031962 | Elevated serum anion gap |
| HP:0031961 | Abnormal serum anion gap |
| HP:0031969 | Reduced blood urea nitrogen |
| HP:0031967 | Cloudy urine |
| http://purl.obolibrary.org/obo/GO_0006090 | pyruvate metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0004857 | skeletal muscle connective tissue |
| HP:0004353 | Abnormal circulating pyrimidine concentration |
| http://purl.obolibrary.org/obo/UBERON_0004851 | aorta endothelium |
| http://purl.obolibrary.org/obo/UBERON_0004850 | lymph node endothelium |
| http://purl.obolibrary.org/obo/GO_0055092 | sterol homeostasis |
| http://purl.obolibrary.org/obo/UBERON_0004869 | parietal organ |
| http://purl.obolibrary.org/obo/UBERON_0004867 | orbital cavity |
| http://purl.obolibrary.org/obo/UBERON_0004864 | vasculature of retina |
| http://purl.obolibrary.org/obo/UBERON_0004863 | thoracic sympathetic nerve trunk |
| http://purl.obolibrary.org/obo/UBERON_0002202 | submucosa of trachea |
| http://purl.obolibrary.org/obo/UBERON_0002204 | musculoskeletal system |
| http://purl.obolibrary.org/obo/UBERON_0002207 | xiphoid process |
| http://purl.obolibrary.org/obo/UBERON_0002208 | sternebra |
| http://purl.obolibrary.org/obo/GO_0055088 | lipid homeostasis |
| http://purl.obolibrary.org/obo/CHEBI_37661 | glucopyranose |
| http://purl.obolibrary.org/obo/CHEBI_17234 | glucose |
| http://purl.obolibrary.org/obo/UBERON_0004876 | urogenital fold |
| http://purl.obolibrary.org/obo/UBERON_0004875 | nephrogenic cord |
| http://purl.obolibrary.org/obo/CHEBI_741548 | ethylmalonic acid |
| http://purl.obolibrary.org/obo/UBERON_0004874 | somatopleure |
| http://purl.obolibrary.org/obo/GO_0055069 | zinc ion homeostasis |
| HP:0004373 | Focal dystonia |
| http://purl.obolibrary.org/obo/CHEBI_50646 | bone density conservation agent |
| http://purl.obolibrary.org/obo/GO_0055071 | manganese ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0055076 | transition metal ion homeostasis |
| http://purl.obolibrary.org/obo/UBERON_0004873 | splanchnopleure |
| http://purl.obolibrary.org/obo/UBERON_0004872 | splanchnic layer of lateral plate mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0016854 | dorsal part of optic cup |
| http://purl.obolibrary.org/obo/UBERON_0016855 | ventral part of optic cup |
| http://purl.obolibrary.org/obo/UBERON_0004871 | somatic layer of lateral plate mesoderm |
| http://purl.obolibrary.org/obo/GO_0043084 | penile erection |
| http://purl.obolibrary.org/obo/UBERON_0002224 | thoracic cavity |
| HP:0004384 | Type I truncus arteriosus |
| http://purl.obolibrary.org/obo/GO_0055062 | phosphate ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0072505 | divalent inorganic anion homeostasis |
| http://purl.obolibrary.org/obo/GO_0072506 | trivalent inorganic anion homeostasis |
| HP:0004385 | Protracted diarrhea |
| HP:0004387 | Enterocolitis |
| http://purl.obolibrary.org/obo/GO_0055067 | monovalent inorganic cation homeostasis |
| HP:0004380 | Aortic valve calcification |
| HP:0004381 | Supravalvular aortic stenosis |
| http://purl.obolibrary.org/obo/GO_0055064 | chloride ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0055083 | monovalent inorganic anion homeostasis |
| http://purl.obolibrary.org/obo/GO_0055081 | anion homeostasis |
| http://purl.obolibrary.org/obo/UBERON_0004883 | lung mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0004880 | chordamesoderm |
| HP:0004389 | Intestinal pseudo-obstruction |
| http://purl.obolibrary.org/obo/CHEBI_62643 | anionic phospholipid |
| HP:0100171 | Cone-shaped epiphysis of the distal phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/UBERON_0004813 | seminiferous tubule epithelium |
| http://purl.obolibrary.org/obo/UBERON_0004812 | male prepuce epithelium |
| HP:0100170 | Bracket epiphysis of the distal phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/UBERON_0004811 | endometrium epithelium |
| HP:0100173 | Fragmentation of the epiphysis of the distal phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/UBERON_0004810 | nephron tubule epithelium |
| HP:0100172 | Enlarged epiphysis of the distal phalanx of the 4th toe |
| HP:0100175 | Ivory epiphysis of the distal phalanx of the 4th toe |
| HP:0100174 | Irregular epiphysis of the distal phalanx of the 4th toe |
| HP:0100177 | Small epiphysis of the distal phalanx of the 4th toe |
| HP:0100176 | Pseudoepiphysis of the distal phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/GO_0006000 | fructose metabolic process |
| HP:0100179 | Triangular epiphysis of the distal phalanx of the 4th toe |
| HP:0100178 | Stippling of the epiphysis of the distal phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/UBERON_0004817 | lacrimal gland epithelium |
| http://purl.obolibrary.org/obo/GO_0006006 | glucose metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0004816 | larynx epithelium |
| HP:0100160 | Enlarged epiphysis of the proximal phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/UBERON_0004823 | intrahepatic bile duct epithelium |
| HP:0100162 | Irregular epiphysis of the proximal phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/UBERON_0004822 | extrahepatic bile duct epithelium |
| HP:0100161 | Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/UBERON_0004820 | bile duct epithelium |
| http://purl.obolibrary.org/obo/UBERON_0034932 | epithelium of biliary system |
| HP:0100164 | Pseudoepiphysis of the proximal phalanx of the 3rd toe |
| HP:0100163 | Ivory epiphysis of the proximal phalanx of the 3rd toe |
| HP:0100166 | Stippling of the epiphysis of the proximal phalanx of the 3rd toe |
| HP:0100165 | Small epiphysis of the proximal phalanx of the 3rd toe |
| HP:0100167 | Triangular epiphysis of the proximal phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/UBERON_0004829 | urethra skeletal muscle tissue |
| HP:0100169 | Absent epiphysis of the distal phalanx of the 4th toe |
| HP:0100094 | Abnormality of the epiphysis of the distal phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/UBERON_0004827 | thyroid gland medulla |
| http://purl.obolibrary.org/obo/UBERON_0004835 | epididymis smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004834 | hepatic duct smooth muscle |
| HP:0100151 | Irregular epiphysis of the middle phalanx of the 3rd toe |
| http://www.informatics.jax.org/marker/MGI:88271 | Cat (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0004833 | lip skeletal muscle |
| HP:0100150 | Fragmentation of the epiphysis of the middle phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/UBERON_0004832 | anal region skeletal muscle |
| http://purl.obolibrary.org/obo/UBERON_0004831 | esophagus skeletal muscle |
| HP:0100153 | Pseudoepiphysis of the middle phalanx of the 3rd toe |
| HP:0100152 | Ivory epiphysis of the middle phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/PR_000025813 | receptor-type tyrosine-protein phosphatase C isoform CD45R, signal peptide removed glycosylated form |
| HP:0100155 | Stippling of the epiphysis of the middle phalanx of the 3rd toe |
| HP:0100154 | Small epiphysis of the middle phalanx of the 3rd toe |
| HP:0100157 | Absent epiphysis of the proximal phalanx of the 3rd toe |
| HP:0100156 | Triangular epiphysis of the middle phalanx of the 3rd toe |
| HP:0100159 | Cone-shaped epiphysis of the proximal phalanx of the 3rd toe |
| HP:0100158 | Bracket epiphysis of the proximal phalanx of the 3rd toe |
| HP:0100093 | Abnormality of the epiphysis of the proximal phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/GO_0006029 | proteoglycan metabolic process |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8149 | OPLAH (human) |
| http://purl.obolibrary.org/obo/PR_000025805 | receptor-type tyrosine-protein phosphatase C isoform CD45RABC, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001014 | receptor-type tyrosine-protein phosphatase C isoform CD45RABC |
| http://purl.obolibrary.org/obo/UBERON_0004848 | respiratory system arterial endothelium |
| HP:0100140 | Irregular epiphysis of the distal phalanx of the 3rd toe |
| HP:0100060 | Irregular epiphyses of the 3rd toe |
| HP:0100142 | Pseudoepiphysis of the distal phalanx of the 3rd toe |
| HP:0100062 | Pseudoepiphyses of the 3rd toe |
| HP:0100141 | Ivory epiphysis of the distal phalanx of the 3rd toe |
| HP:0100061 | Ivory epiphyses of the 3rd toe |
| HP:0100144 | Stippling of the epiphysis of the distal phalanx of the 3rd toe |
| HP:0100064 | Stippling of the epiphyses of the 3rd toe |
| http://purl.obolibrary.org/obo/GO_0006012 | galactose metabolic process |
| HP:0100143 | Small epiphysis of the distal phalanx of the 3rd toe |
| HP:0100063 | Small epiphyses of the 3rd toe |
| HP:0100146 | Absent epiphysis of the middle phalanx of the 3rd toe |
| HP:0100145 | Triangular epiphysis of the distal phalanx of the 3rd toe |
| HP:0100065 | Triangular epiphyses of the 3rd toe |
| HP:0100148 | Cone-shaped epiphysis of the middle phalanx of the 3rd toe |
| HP:0100147 | Bracket epiphysis of the middle phalanx of the 3rd toe |
| HP:0100149 | Enlarged epiphysis of the middle phalanx of the 3rd toe |
| HP:0100092 | Abnormality of the epiphysis of the middle phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/UBERON_0004849 | respiratory system venous endothelium |
| http://purl.obolibrary.org/obo/PR_000025814 | receptor-type tyrosine-protein phosphatase C isoform CD45RA, signal peptide removed glycosylated form |
| http://purl.obolibrary.org/obo/PR_000037069 | glycoprotein |
| http://purl.obolibrary.org/obo/PR_000025806 | receptor-type tyrosine-protein phosphatase C isoform CD45RA, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001015 | receptor-type tyrosine-protein phosphatase C isoform CD45RA |
| http://purl.obolibrary.org/obo/PR_000050216 | receptor-type tyrosine-protein phosphatase C isoform CD45R |
| HP:0100131 | Stippling of the epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100130 | Small epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100133 | Abnormality of the pubic hair |
| HP:0100132 | Triangular epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100135 | Absent epiphysis of the distal phalanx of the 3rd toe |
| HP:0100055 | Absent epiphyses of the 3rd toe |
| HP:0100134 | Abnormality of the axillary hair |
| HP:0100137 | Cone-shaped epiphysis of the distal phalanx of the 3rd toe |
| HP:0100057 | Cone-shaped epiphyses of the 3rd toe |
| HP:0100136 | Bracket epiphysis of the distal phalanx of the 3rd toe |
| HP:0100056 | Bracket epiphyses of the 3rd toe |
| http://purl.obolibrary.org/obo/CHEBI_131565 | steroid aldehyde |
| HP:0100139 | Fragmentation of the epiphysis of the distal phalanx of the 3rd toe |
| HP:0100059 | Fragmentation of the epiphyses of the 3rd toe |
| HP:0100138 | Enlarged epiphysis of the distal phalanx of the 3rd toe |
| HP:0100091 | Abnormality of the epiphysis of the distal phalanx of the 3rd toe |
| HP:0100058 | Enlarged epiphyses of the 3rd toe |
| HP:0010329 | Abnormality of the epiphyses of the 3rd toe |
| HP:0100120 | Stippling of the epiphysis of the middle phalanx of the 2nd toe |
| HP:0100122 | Absent epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100121 | Triangular epiphysis of the middle phalanx of the 2nd toe |
| HP:0100124 | Cone-shaped epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100123 | Bracket epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100126 | Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100125 | Enlarged epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100128 | Ivory epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100127 | Irregular epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100129 | Pseudoepiphysis of the proximal phalanx of the 2nd toe |
| HP:0100090 | Abnormality of the epiphysis of the proximal phalanx of the 2nd toe |
| HP:0100111 | Absent epiphysis of the middle phalanx of the 2nd toe |
| HP:0100110 | Triangular epiphysis of the distal phalanx of the 2nd toe |
| HP:0100054 | Triangular epiphyses of the 2nd toe |
| http://purl.obolibrary.org/obo/GO_0006066 | alcohol metabolic process |
| HP:0100113 | Cone-shaped epiphysis of the middle phalanx of the 2nd toe |
| HP:0100112 | Bracket epiphysis of the middle phalanx of the 2nd toe |
| HP:0100115 | Fragmentation of the epiphysis of the middle phalanx of the 2nd toe |
| HP:0100114 | Enlarged epiphysis of the middle phalanx of the 2nd toe |
| HP:0100117 | Ivory epiphysis of the middle phalanx of the 2nd toe |
| HP:0100116 | Irregular epiphysis of the middle phalanx of the 2nd toe |
| HP:0100119 | Small epiphysis of the middle phalanx of the 2nd toe |
| HP:0100118 | Pseudoepiphysis of the middle phalanx of the 2nd toe |
| HP:0100089 | Abnormality of the epiphysis of the middle phalanx of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0004803 | penis epithelium |
| http://purl.obolibrary.org/obo/CHEBI_25629 | octadecanoate |
| http://purl.obolibrary.org/obo/CHEBI_78125 | fatty acid anion 18:0 |
| HP:0100100 | Absent epiphysis of the distal phalanx of the 2nd toe |
| HP:0100044 | Absent epiphyses of the 2nd toe |
| HP:0100102 | Cone-shaped epiphysis of the distal phalanx of the 2nd toe |
| HP:0100046 | Cone-shaped epiphyses of the 2nd toe |
| HP:0100101 | Bracket epiphysis of the distal phalanx of the 2nd toe |
| HP:0100045 | Bracket epiphyses of the 2nd toe |
| HP:0100104 | Fragmentation of the epiphysis of the distal phalanx of the 2nd toe |
| HP:0100048 | Fragmentation of the epiphyses of the 2nd toe |
| HP:0100103 | Enlarged epiphysis of the distal phalanx of the 2nd toe |
| HP:0100047 | Enlarged epiphyses of the 2nd toe |
| HP:0100106 | Ivory epiphysis of the distal phalanx of the 2nd toe |
| HP:0100050 | Ivory epiphyses of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0004806 | vas deferens epithelium |
| HP:0100105 | Irregular epiphysis of the distal phalanx of the 2nd toe |
| HP:0100049 | Irregular epiphyses of the 2nd toe |
| http://purl.obolibrary.org/obo/UBERON_0004805 | seminal vesicle epithelium |
| http://purl.obolibrary.org/obo/UBERON_0004910 | epithelium of male gonad |
| HP:0100108 | Small epiphysis of the distal phalanx of the 2nd toe |
| HP:0100052 | Small epiphyses of the 2nd toe |
| HP:0100107 | Pseudoepiphysis of the distal phalanx of the 2nd toe |
| HP:0100051 | Pseudoepiphyses of the 2nd toe |
| HP:0100109 | Stippling of the epiphysis of the distal phalanx of the 2nd toe |
| HP:0100088 | Abnormality of the epiphysis of the distal phalanx of the 2nd toe |
| HP:0010356 | Abnormality of the distal phalanx of the 2nd toe |
| HP:0100053 | Stippling of the epiphyses of the 2nd toe |
| HP:0010323 | Abnormality of the epiphyses of the 2nd toe |
| http://purl.obolibrary.org/obo/GO_0045651 | positive regulation of macrophage differentiation |
| http://purl.obolibrary.org/obo/GO_0045650 | negative regulation of macrophage differentiation |
| http://purl.obolibrary.org/obo/GO_0045649 | regulation of macrophage differentiation |
| http://purl.obolibrary.org/obo/GO_0045642 | positive regulation of basophil differentiation |
| http://purl.obolibrary.org/obo/GO_0030854 | positive regulation of granulocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045641 | negative regulation of basophil differentiation |
| http://purl.obolibrary.org/obo/GO_0030853 | negative regulation of granulocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045648 | positive regulation of erythrocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045647 | negative regulation of erythrocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045646 | regulation of erythrocyte differentiation |
| HP:0006906 | Congenital intracerebral calcification |
| HP:0006904 | Late-onset spinocerebellar degeneration |
| http://purl.obolibrary.org/obo/GO_0045640 | regulation of basophil differentiation |
| http://purl.obolibrary.org/obo/GO_0030852 | regulation of granulocyte differentiation |
| HP:0006903 | Congenital peripheral neuropathy |
| HP:0006901 | Impaired thermal sensitivity |
| HP:0006918 | Diffuse cerebral sclerosis |
| HP:0006916 | Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material |
| HP:0006915 | Inability to walk by childhood/adolescence |
| HP:0002505 | Progressive inability to walk |
| HP:0002540 | Inability to walk |
| http://purl.obolibrary.org/obo/CHEBI_356416 | 5-ammoniolevulinate |
| HP:0006919 | Abnormal aggressive, impulsive or violent behavior |
| http://purl.obolibrary.org/obo/SO_0000010 | protein_coding |
| http://purl.obolibrary.org/obo/GO_0045620 | negative regulation of lymphocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045621 | positive regulation of lymphocyte differentiation |
| HP:0006913 | Frontal cortical atrophy |
| HP:0006929 | Hypoglycemic encephalopathy |
| HP:0006927 | Unilateral polymicrogyria |
| HP:0006926 | Metachromatic leukodystrophy variant |
| http://purl.obolibrary.org/obo/GO_0045617 | negative regulation of keratinocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045619 | regulation of lymphocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045618 | positive regulation of keratinocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045616 | regulation of keratinocyte differentiation |
| HP:0006921 | Axial muscle stiffness |
| http://purl.obolibrary.org/obo/GO_0045606 | positive regulation of epidermal cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045684 | positive regulation of epidermis development |
| http://purl.obolibrary.org/obo/GO_0030858 | positive regulation of epithelial cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045605 | negative regulation of epidermal cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045683 | negative regulation of epidermis development |
| http://purl.obolibrary.org/obo/GO_0030857 | negative regulation of epithelial cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045600 | positive regulation of fat cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045598 | regulation of fat cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045604 | regulation of epidermal cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045682 | regulation of epidermis development |
| http://purl.obolibrary.org/obo/GO_0030856 | regulation of epithelial cell differentiation |
| HP:0100191 | Absent epiphysis of the proximal phalanx of the 4th toe |
| HP:0100190 | Triangular epiphysis of the middle phalanx of the 4th toe |
| HP:0100193 | Cone-shaped epiphysis of the proximal phalanx of the 4th toe |
| HP:0100192 | Bracket epiphysis of the proximal phalanx of the 4th toe |
| HP:0100195 | Fragmentation of the epiphysis of the proximal phalanx of the 4th toe |
| HP:0100194 | Enlarged epiphysis of the proximal phalanx of the 4th toe |
| HP:0100197 | Ivory epiphysis of the proximal phalanx of the 4th toe |
| HP:0100196 | Irregular epiphysis of the proximal phalanx of the 4th toe |
| HP:0100199 | Small epiphysis of the proximal phalanx of the 4th toe |
| HP:0100198 | Pseudoepiphysis of the proximal phalanx of the 4th toe |
| HP:0100180 | Absent epiphysis of the middle phalanx of the 4th toe |
| HP:0100066 | Absent epiphyses of the 4th toe |
| HP:0100182 | Cone-shaped epiphysis of the middle phalanx of the 4th toe |
| HP:0100068 | Cone-shaped epiphyses of the 4th toe |
| HP:0100181 | Bracket epiphysis of the middle phalanx of the 4th toe |
| HP:0100067 | Bracket epiphyses of the 4th toe |
| HP:0100184 | Fragmentation of the epiphysis of the middle phalanx of the 4th toe |
| HP:0100070 | Fragmentation of the epiphyses of the 4th toe |
| HP:0100183 | Enlarged epiphysis of the middle phalanx of the 4th toe |
| HP:0100069 | Enlarged epiphyses of the 4th toe |
| HP:0100186 | Ivory epiphysis of the middle phalanx of the 4th toe |
| HP:0100072 | Ivory epiphyses of the 4th toe |
| HP:0100185 | Irregular epiphysis of the middle phalanx of the 4th toe |
| HP:0100071 | Irregular epiphyses of the 4th toe |
| HP:0100188 | Small epiphysis of the middle phalanx of the 4th toe |
| HP:0100074 | Small epiphyses of the 4th toe |
| HP:0100187 | Pseudoepiphysis of the middle phalanx of the 4th toe |
| HP:0100073 | Pseudoepiphyses of the 4th toe |
| HP:0100189 | Stippling of the epiphysis of the middle phalanx of the 4th toe |
| HP:0100095 | Abnormality of the epiphysis of the middle phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/PR_000001809 | CD59-like glycoprotein |
| http://purl.obolibrary.org/obo/UBERON_0002193 | hemolymphoid system |
| http://purl.obolibrary.org/obo/UBERON_0002194 | capsule of lymph node |
| HP:0004430 | Severe combined immunodeficiency |
| http://purl.obolibrary.org/obo/UBERON_0002195 | trabecula of lymph node |
| http://purl.obolibrary.org/obo/UBERON_0002196 | adenohypophysis |
| http://purl.obolibrary.org/obo/UBERON_0002198 | neurohypophysis |
| http://purl.obolibrary.org/obo/UBERON_0002199 | integument |
| HP:0004438 | Hyperostosis frontalis interna |
| HP:0004432 | Agammaglobulinemia |
| http://purl.obolibrary.org/obo/UBERON_0002190 | subcutaneous adipose tissue |
| HP:0004433 | Secretory IgA deficiency |
| HP:0004434 | C8 deficiency |
| http://purl.obolibrary.org/obo/UBERON_0002191 | subiculum |
| HP:0004442 | Sagittal craniosynostosis |
| HP:0004444 | Spherocytosis |
| HP:0004445 | Elliptocytosis |
| HP:0004446 | Stomatocytosis |
| HP:0004450 | Preauricular skin furrow |
| HP:0004451 | Postauricular skin tag |
| HP:0004453 | Overfolding of the superior helices |
| HP:0000396 | Overfolded helix |
| HP:0008544 | Abnormally folded helix |
| HP:0004458 | Dilatated internal auditory canal |
| HP:0004459 | Exostosis of the external auditory canal |
| HP:0004461 | Congenital earlobe sinuses |
| HP:0004463 | Absent brainstem auditory responses |
| HP:0004464 | Postauricular pit |
| HP:0004469 | Chronic bronchitis |
| HP:0004466 | Prolonged brainstem auditory evoked potentials |
| HP:0006958 | Abnormal auditory evoked potentials |
| HP:0004467 | Preauricular pit |
| HP:0004468 | Anomalous tracheal cartilage |
| http://purl.obolibrary.org/obo/GO_0043392 | negative regulation of DNA binding |
| http://purl.obolibrary.org/obo/UBERON_0002150 | superior cerebellar peduncle |
| http://purl.obolibrary.org/obo/UBERON_0002152 | middle cerebellar peduncle |
| http://purl.obolibrary.org/obo/UBERON_0007416 | cerebellar peduncle |
| http://purl.obolibrary.org/obo/UBERON_0007417 | peduncle of neuraxis |
| http://purl.obolibrary.org/obo/UBERON_0019292 | white matter of pons |
| http://purl.obolibrary.org/obo/UBERON_0019291 | white matter of metencephalon |
| http://purl.obolibrary.org/obo/UBERON_0019258 | white matter of hindbrain |
| http://purl.obolibrary.org/obo/UBERON_0014891 | brainstem white matter |
| http://purl.obolibrary.org/obo/GO_0043388 | positive regulation of DNA binding |
| http://purl.obolibrary.org/obo/GO_0043384 | pre-T cell receptor complex |
| HP:0004407 | Bony paranasal bossing |
| HP:0012812 | Fullness of paranasal tissue |
| http://purl.obolibrary.org/obo/UBERON_0002168 | left lung |
| http://purl.obolibrary.org/obo/UBERON_0002166 | endocardium of atrium |
| http://purl.obolibrary.org/obo/UBERON_0002167 | right lung |
| HP:0004403 | Proximal esophageal atresia |
| HP:0004405 | Prominent nipples |
| HP:0004406 | Spontaneous, recurrent epistaxis |
| HP:0000421 | Epistaxis |
| HP:0004401 | Meconium ileus |
| HP:0004419 | Recurrent thrombophlebitis |
| HP:0004418 | Thrombophlebitis |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0004416 | Precocious atherosclerosis |
| HP:0004417 | Intermittent claudication |
| http://purl.obolibrary.org/obo/GO_0070962 | positive regulation of neutrophil mediated killing of bacterium |
| http://purl.obolibrary.org/obo/GO_0070961 | positive regulation of neutrophil mediated killing of symbiont cell |
| http://purl.obolibrary.org/obo/GO_0070960 | positive regulation of neutrophil mediated cytotoxicity |
| http://purl.obolibrary.org/obo/GO_0001912 | positive regulation of leukocyte mediated cytotoxicity |
| http://purl.obolibrary.org/obo/GO_1900426 | positive regulation of defense response to bacterium |
| HP:0004411 | Deviated nasal septum |
| http://purl.obolibrary.org/obo/GO_0043368 | positive T cell selection |
| http://purl.obolibrary.org/obo/GO_0045058 | T cell selection |
| HP:0004420 | Arterial thrombosis |
| HP:0004425 | Flat forehead |
| HP:0004428 | Elfin facies |
| HP:0004422 | Biparietal narrowing |
| HP:0004423 | Cranium bifidum occultum |
| http://purl.obolibrary.org/obo/UBERON_0002180 | ventral funiculus of spinal cord |
| http://purl.obolibrary.org/obo/GO_0070977 | bone maturation |
| http://purl.obolibrary.org/obo/UBERON_0004779 | respiratory system lamina propria |
| http://purl.obolibrary.org/obo/UBERON_0004778 | larynx submucosa |
| HP:0100210 | Small epiphysis of the distal phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002114 | duodenum |
| HP:0100212 | Triangular epiphysis of the distal phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002115 | jejunum |
| HP:0100211 | Stippling of the epiphysis of the distal phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002116 | ileum |
| HP:0100214 | Bracket epiphysis of the middle phalanx of the 5th toe |
| HP:0100213 | Absent epiphysis of the middle phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002118 | right ovary |
| HP:0100216 | Enlarged epiphysis of the middle phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002119 | left ovary |
| http://purl.obolibrary.org/obo/UBERON_0000992 | ovary |
| HP:0100215 | Cone-shaped epiphysis of the middle phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/CHEBI_23354 | coenzyme |
| HP:0100218 | Irregular epiphysis of the middle phalanx of the 5th toe |
| HP:0100217 | Fragmentation of the epiphysis of the middle phalanx of the 5th toe |
| HP:0100219 | Ivory epiphysis of the middle phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002110 | gall bladder |
| http://purl.obolibrary.org/obo/UBERON_0002111 | artery smooth muscle tissue |
| http://purl.obolibrary.org/obo/UBERON_0002112 | smooth muscle of esophagus |
| http://purl.obolibrary.org/obo/UBERON_0004774 | inferior eyelid tarsus |
| http://purl.obolibrary.org/obo/UBERON_0004773 | superior eyelid tarsus |
| http://purl.obolibrary.org/obo/UBERON_0004772 | eyelid tarsus |
| http://purl.obolibrary.org/obo/UBERON_0004771 | posterior nasal aperture |
| http://purl.obolibrary.org/obo/UBERON_0036253 | orifice of skull |
| http://purl.obolibrary.org/obo/UBERON_0010425 | internal naris |
| http://purl.obolibrary.org/obo/UBERON_0004770 | articular system |
| http://purl.obolibrary.org/obo/UBERON_0004789 | larynx mucous gland |
| http://purl.obolibrary.org/obo/UBERON_0002124 | medulla of thymus |
| http://purl.obolibrary.org/obo/UBERON_0002125 | thymus lobule |
| HP:0100201 | Triangular epiphysis of the proximal phalanx of the 4th toe |
| HP:0100076 | Triangular epiphyses of the 4th toe |
| HP:0100200 | Stippling of the epiphysis of the proximal phalanx of the 4th toe |
| HP:0100075 | Stippling of the epiphyses of the 4th toe |
| HP:0100096 | Abnormality of the epiphysis of the proximal phalanx of the 4th toe |
| HP:0010335 | Abnormality of the epiphyses of the 4th toe |
| HP:0100203 | Bracket epiphysis of the distal phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002128 | superior olivary complex |
| HP:0100202 | Absent epiphysis of the distal phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002129 | cerebellar cortex |
| HP:0100205 | Enlarged epiphysis of the distal phalanx of the 5th toe |
| HP:0100204 | Cone-shaped epiphysis of the distal phalanx of the 5th toe |
| HP:0100207 | Irregular epiphysis of the distal phalanx of the 5th toe |
| HP:0100206 | Fragmentation of the epiphysis of the distal phalanx of the 5th toe |
| HP:0100209 | Pseudoepiphysis of the distal phalanx of the 5th toe |
| HP:0100208 | Ivory epiphysis of the distal phalanx of the 5th toe |
| HP:0100097 | Abnormality of the epiphysis of the distal phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/UBERON_0002120 | pronephros |
| http://purl.obolibrary.org/obo/UBERON_0002122 | capsule of thymus |
| http://purl.obolibrary.org/obo/UBERON_0002123 | cortex of thymus |
| http://purl.obolibrary.org/obo/UBERON_0004784 | heart ventricle wall |
| http://purl.obolibrary.org/obo/UBERON_0004783 | gall bladder serosa |
| http://purl.obolibrary.org/obo/UBERON_0004781 | gall bladder lamina propria |
| http://purl.obolibrary.org/obo/CHEBI_62944 | sialic acid anion |
| http://purl.obolibrary.org/obo/UBERON_0002135 | mitral valve |
| http://purl.obolibrary.org/obo/UBERON_0002137 | aortic valve |
| http://purl.obolibrary.org/obo/CHEBI_50967 | non-covalently-bound molecular entity |
| http://purl.obolibrary.org/obo/UBERON_0002130 | cerebellar nuclear complex |
| http://purl.obolibrary.org/obo/UBERON_0019263 | gray matter of hindbrain |
| http://purl.obolibrary.org/obo/UBERON_0002132 | dentate nucleus |
| http://purl.obolibrary.org/obo/UBERON_0002134 | tricuspid valve |
| http://purl.obolibrary.org/obo/UBERON_0002133 | atrioventricular valve |
| http://purl.obolibrary.org/obo/UBERON_0005208 | right atrium valve |
| http://purl.obolibrary.org/obo/UBERON_0004796 | prostate gland secretion |
| http://purl.obolibrary.org/obo/UBERON_0004794 | esophagus secretion |
| http://purl.obolibrary.org/obo/UBERON_0004793 | secretion of exocrine pancreas |
| http://purl.obolibrary.org/obo/UBERON_0004792 | secretion of endocrine pancreas |
| http://purl.obolibrary.org/obo/UBERON_0004795 | pancreas secretion |
| http://purl.obolibrary.org/obo/UBERON_0004791 | thymus trabecula |
| http://purl.obolibrary.org/obo/UBERON_0004790 | skin mucous gland |
| http://purl.obolibrary.org/obo/UBERON_0002146 | pulmonary valve |
| http://purl.obolibrary.org/obo/UBERON_0005623 | semi-lunar valve |
| http://purl.obolibrary.org/obo/UBERON_0000946 | cardial valve |
| http://purl.obolibrary.org/obo/UBERON_0002148 | locus ceruleus |
| http://purl.obolibrary.org/obo/UBERON_0002149 | superior salivatory nucleus |
| http://purl.obolibrary.org/obo/CHEBI_23366 | compatible osmolytes |
| http://purl.obolibrary.org/obo/CHEBI_25728 | osmolyte |
| http://purl.obolibrary.org/obo/CHEBI_35342 | 17alpha-hydroxy steroid |
| http://purl.obolibrary.org/obo/CHEBI_35343 | 17beta-hydroxy steroid |
| http://purl.obolibrary.org/obo/CHEBI_60308 | 3,3',5-triiodo-L-thyroninate |
| http://purl.obolibrary.org/obo/UBERON_0004737 | metanephric collecting duct |
| http://purl.obolibrary.org/obo/UBERON_0004736 | metanephric glomerulus |
| http://purl.obolibrary.org/obo/UBERON_0004734 | gastrula |
| http://purl.obolibrary.org/obo/UBERON_0004739 | pronephric glomerulus |
| http://purl.obolibrary.org/obo/UBERON_0000074 | renal glomerulus |
| HP:0004472 | Mandibular hyperostosis |
| HP:0004474 | Persistent open anterior fontanelle |
| HP:0004470 | Atretic occipital cephalocele |
| http://purl.obolibrary.org/obo/CHEBI_60311 | thyroid hormone |
| http://purl.obolibrary.org/obo/CHEBI_59326 | prostaglandin carboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_62943 | prostanoid anion |
| http://purl.obolibrary.org/obo/CHEBI_62937 | icosanoid anion |
| HP:0004478 | Ethmoidal encephalocele |
| HP:0004484 | Craniofacial asymmetry |
| HP:0004485 | Cessation of head growth |
| HP:0004481 | Progressive macrocephaly |
| HP:0004482 | Relative macrocephaly |
| http://purl.obolibrary.org/obo/CHEBI_62981 | 4-hydroxy-L-prolinate |
| http://purl.obolibrary.org/obo/CHEBI_62978 | 4-hydroxyprolinate |
| HP:0004487 | Acrobrachycephaly |
| HP:0000248 | Brachycephaly |
| HP:0004488 | Macrocephaly at birth |
| http://purl.obolibrary.org/obo/CHEBI_35391 | aspartate(1-) |
| http://purl.obolibrary.org/obo/UBERON_0004753 | scapulocoracoid |
| HP:0004495 | Thin anteverted nares |
| HP:0000463 | Anteverted nares |
| HP:0004496 | Posterior choanal atresia |
| HP:0004490 | Calvarial hyperostosis |
| HP:0004491 | Large posterior fontanelle |
| HP:0004492 | Widely patent fontanelles and sutures |
| HP:0000239 | Large fontanelles |
| HP:0010537 | Wide cranial sutures |
| HP:0004499 | Chronic rhinitis due to narrow nasal airway |
| http://purl.obolibrary.org/obo/UBERON_0004767 | vomerine tooth |
| http://purl.obolibrary.org/obo/UBERON_0012070 | palatal tooth |
| http://purl.obolibrary.org/obo/UBERON_0002102 | forelimb |
| http://purl.obolibrary.org/obo/UBERON_0002103 | hindlimb |
| http://purl.obolibrary.org/obo/UBERON_0002104 | visual system |
| http://purl.obolibrary.org/obo/UBERON_0002105 | vestibulo-auditory system |
| http://purl.obolibrary.org/obo/UBERON_0002106 | spleen |
| http://purl.obolibrary.org/obo/UBERON_0017672 | abdominal viscera |
| http://purl.obolibrary.org/obo/UBERON_0002107 | liver |
| http://purl.obolibrary.org/obo/UBERON_0002108 | small intestine |
| http://purl.obolibrary.org/obo/UBERON_0002109 | pair of nares |
| http://purl.obolibrary.org/obo/UBERON_0002100 | trunk |
| http://purl.obolibrary.org/obo/UBERON_0002101 | limb |
| http://purl.obolibrary.org/obo/UBERON_0004761 | cartilaginous neurocranium |
| http://purl.obolibrary.org/obo/UBERON_0004760 | gland of anal canal |
| http://www.informatics.jax.org/marker/MGI:98384 | Spn (mouse) |
| HP:0100290 | Abnormality of peripheral somatosensory evoked potentials |
| HP:0100292 | Amyloidosis of peripheral nerves |
| HP:0100291 | Abnormality of central somatosensory evoked potentials |
| HP:0100293 | Muscle fiber hypertrophy |
| HP:0100296 | Perifascicular muscle fiber atrophy |
| HP:0100298 | Motheaten muscle fibers |
| HP:0100297 | Increased endomysial connective tissue |
| http://purl.obolibrary.org/obo/GO_0045923 | positive regulation of fatty acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0045922 | negative regulation of fatty acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0031305 | integral component of mitochondrial inner membrane |
| HP:0100280 | Crohn's disease |
| HP:0100283 | EMG: continuous motor unit activity at rest |
| HP:0100282 | Acute colitis |
| HP:0100284 | EMG: myotonic discharges |
| HP:0100287 | EMG: slow motor conduction |
| HP:0100288 | EMG: myokymic discharges |
| HP:0002411 | Myokymia |
| http://purl.obolibrary.org/obo/UBERON_0004709 | pelvic appendage |
| http://purl.obolibrary.org/obo/UBERON_0004707 | pharyngula stage |
| http://purl.obolibrary.org/obo/UBERON_0000105 | life cycle stage |
| http://purl.obolibrary.org/obo/UBERON_0000000 | processual entity |
| http://purl.obolibrary.org/obo/GO_0031304 | intrinsic component of mitochondrial inner membrane |
| http://purl.obolibrary.org/obo/UBERON_0004706 | bulbus cordis |
| http://purl.obolibrary.org/obo/GO_0045916 | negative regulation of complement activation |
| http://purl.obolibrary.org/obo/GO_0045917 | positive regulation of complement activation |
| http://purl.obolibrary.org/obo/GO_0030449 | regulation of complement activation |
| http://purl.obolibrary.org/obo/GO_0045910 | negative regulation of DNA recombination |
| http://purl.obolibrary.org/obo/GO_0045911 | positive regulation of DNA recombination |
| http://purl.obolibrary.org/obo/UBERON_0004716 | conceptus |
| http://purl.obolibrary.org/obo/UBERON_0004715 | annulus fibrosus disci intervertebralis |
| http://purl.obolibrary.org/obo/UBERON_0004714 | septum pellucidum |
| HP:0100270 | Abnormality of dorsoventral patterning of the limbs |
| http://purl.obolibrary.org/obo/UBERON_0004713 | corpus cavernosum penis |
| HP:0100272 | Branchial sinus |
| HP:0100271 | Hyponasal speech |
| HP:0100274 | Gustatory lacrimation |
| http://purl.obolibrary.org/obo/UBERON_0004710 | pectoral appendage |
| http://purl.obolibrary.org/obo/UBERON_0004708 | paired limb/fin |
| http://purl.obolibrary.org/obo/UBERON_0000026 | appendage |
| HP:0100275 | Diffuse cerebellar atrophy |
| HP:0100277 | Periauricular skin pits |
| HP:0100279 | Ulcerative colitis |
| HP:0100281 | Chronic colitis |
| HP:0002583 | Colitis |
| http://purl.obolibrary.org/obo/CHEBI_13941 | carbamate |
| http://purl.obolibrary.org/obo/GO_0045901 | positive regulation of translational elongation |
| http://purl.obolibrary.org/obo/GO_0045727 | positive regulation of translation |
| http://purl.obolibrary.org/obo/GO_0045900 | negative regulation of translational elongation |
| http://purl.obolibrary.org/obo/UBERON_0004727 | cochlear nerve |
| http://purl.obolibrary.org/obo/UBERON_0004724 | medial palpebral ligament |
| http://purl.obolibrary.org/obo/UBERON_0004720 | cerebellar vermis |
| http://purl.obolibrary.org/obo/UBERON_0002749 | regional part of cerebellar cortex |
| HP:0100268 | Upper lip pit |
| HP:0100269 | Paramedian lip pit |
| HP:0100267 | Lip pit |
| HP:0100276 | Skin pit |
| HP:0100250 | Meningeal calcification |
| HP:0100252 | Diaphyseal dysplasia |
| HP:0100251 | Multiple central nervous system lipomas |
| HP:0100254 | Stenosis of the medullary cavity of the long bones |
| HP:0100253 | Abnormality of the medullary cavity of the long bones |
| http://purl.obolibrary.org/obo/GO_0031330 | negative regulation of cellular catabolic process |
| http://purl.obolibrary.org/obo/CHEBI_50903 | carcinogenic agent |
| http://purl.obolibrary.org/obo/CHEBI_50904 | allergen |
| http://purl.obolibrary.org/obo/PR_000047517 | PR:000047517 located_in GO:0005788 |
| http://purl.obolibrary.org/obo/PR_P01275 | PR:P01275 located_in GO:0005788 |
| http://purl.obolibrary.org/obo/PR_000019979 | glucagon, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000007891 | glucagon |
| HP:0100241 | Ectopic respiratory mucosa |
| HP:0100243 | Leiomyosarcoma |
| HP:0100245 | Desmoid tumors |
| HP:0100244 | Fibrosarcoma |
| HP:0100247 | Recurrent singultus |
| HP:0100249 | Calcification of muscles |
| HP:0100248 | Hemiballismus |
| http://purl.obolibrary.org/obo/CHEBI_50910 | neurotoxin |
| http://purl.obolibrary.org/obo/CHEBI_64909 | poison |
| http://purl.obolibrary.org/obo/CHEBI_52209 | aetiopathogenetic role |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1833 | CEBPA (human) |
| HP:0100230 | Ivory epiphysis of the proximal phalanx of the 5th toe |
| HP:0100083 | Ivory epiphyses of the 5th toe |
| HP:0010168 | Ivory epiphyses of the toes |
| HP:0100232 | Small epiphysis of the proximal phalanx of the 5th toe |
| HP:0100231 | Pseudoepiphysis of the proximal phalanx of the 5th toe |
| HP:0100234 | Triangular epiphysis of the proximal phalanx of the 5th toe |
| HP:0100233 | Stippling of the epiphysis of the proximal phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/PR_000047533 | PR:000047533 located_in GO:0005576 |
| http://purl.obolibrary.org/obo/PR_P27352 | cobalamin binding intrinsic factor (human) |
| http://purl.obolibrary.org/obo/PR_000007975 | cobalamin binding intrinsic factor |
| HP:0100221 | Small epiphysis of the middle phalanx of the 5th toe |
| HP:0100085 | Small epiphyses of the 5th toe |
| HP:0010170 | Small epiphyses of the toes |
| HP:0100220 | Pseudoepiphysis of the middle phalanx of the 5th toe |
| HP:0100084 | Pseudoepiphyses of the 5th toe |
| HP:0010169 | Pseudoepiphyses of the toes |
| HP:0100223 | Triangular epiphysis of the middle phalanx of the 5th toe |
| HP:0100087 | Triangular epiphyses of the 5th toe |
| HP:0010172 | Triangular epiphyses of the toes |
| HP:0100222 | Stippling of the epiphysis of the middle phalanx of the 5th toe |
| HP:0100098 | Abnormality of the epiphysis of the middle phalanx of the 5th toe |
| HP:0100086 | Stippling of the epiphyses of the 5th toe |
| HP:0010171 | Epiphyseal stippling of toe phalanges |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1820 | CEACAM8 (human) |
| http://purl.obolibrary.org/obo/CHEBI_25985 | phenylalanine derivative |
| HP:0100225 | Bracket epiphysis of the proximal phalanx of the 5th toe |
| HP:0100078 | Bracket epiphyses of the 5th toe |
| HP:0010163 | Bracket epiphyses of the toes |
| HP:0100224 | Absent epiphysis of the proximal phalanx of the 5th toe |
| HP:0100077 | Absent epiphyses of the 5th toe |
| HP:0010162 | Absent epiphyses of the toes |
| HP:0100227 | Enlarged epiphysis of the proximal phalanx of the 5th toe |
| HP:0100080 | Enlarged epiphyses of the 5th toe |
| HP:0010165 | Enlarged epiphyses of the toes |
| HP:0100226 | Cone-shaped epiphysis of the proximal phalanx of the 5th toe |
| HP:0100079 | Cone-shaped epiphyses of the 5th toe |
| HP:0010164 | Cone-shaped epiphyses of the toes |
| HP:0100229 | Irregular epiphysis of the proximal phalanx of the 5th toe |
| HP:0100082 | Irregular epiphyses of the 5th toe |
| HP:0010167 | Irregular epiphyses of the toes |
| HP:0100228 | Fragmentation of the epiphysis of the proximal phalanx of the 5th toe |
| HP:0100099 | Abnormality of the epiphysis of the proximal phalanx of the 5th toe |
| HP:0100081 | Fragmentation of the epiphyses of the 5th toe |
| HP:0010166 | Fragmentation of the epiphyses of the toes |
| HP:0010341 | Abnormality of the epiphyses of the 5th toe |
| HP:0010160 | Abnormality of the epiphyses of the toes |
| http://purl.obolibrary.org/obo/GO_0070944 | neutrophil-mediated killing of bacterium |
| http://purl.obolibrary.org/obo/GO_0070943 | neutrophil-mediated killing of symbiont cell |
| http://purl.obolibrary.org/obo/GO_0070942 | neutrophil mediated cytotoxicity |
| http://purl.obolibrary.org/obo/GO_0001909 | leukocyte mediated cytotoxicity |
| http://purl.obolibrary.org/obo/GO_0070956 | negative regulation of neutrophil mediated killing of bacterium |
| http://purl.obolibrary.org/obo/GO_0070950 | regulation of neutrophil mediated killing of bacterium |
| http://purl.obolibrary.org/obo/GO_1900425 | negative regulation of defense response to bacterium |
| http://purl.obolibrary.org/obo/GO_1900424 | regulation of defense response to bacterium |
| http://purl.obolibrary.org/obo/GO_0070955 | negative regulation of neutrophil mediated killing of symbiont cell |
| http://purl.obolibrary.org/obo/GO_0070954 | negative regulation of neutrophil mediated cytotoxicity |
| http://purl.obolibrary.org/obo/GO_0001911 | negative regulation of leukocyte mediated cytotoxicity |
| http://purl.obolibrary.org/obo/GO_0070949 | regulation of neutrophil mediated killing of symbiont cell |
| http://purl.obolibrary.org/obo/GO_0070948 | regulation of neutrophil mediated cytotoxicity |
| http://purl.obolibrary.org/obo/GO_0001910 | regulation of leukocyte mediated cytotoxicity |
| http://purl.obolibrary.org/obo/GO_0045992 | negative regulation of embryonic development |
| http://purl.obolibrary.org/obo/GO_0045995 | regulation of embryonic development |
| http://purl.obolibrary.org/obo/CHEBI_131621 | C19-steroid |
| http://purl.obolibrary.org/obo/GO_0045983 | positive regulation of purine nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0045982 | negative regulation of purine nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0006141 | regulation of purine nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0045985 | positive regulation of pyrimidine nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0021915 | neural tube development |
| http://purl.obolibrary.org/obo/GO_0035295 | tube development |
| http://purl.obolibrary.org/obo/GO_0060429 | epithelium development |
| http://purl.obolibrary.org/obo/GO_0045984 | negative regulation of pyrimidine nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0006142 | regulation of pyrimidine nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0045989 | positive regulation of striated muscle contraction |
| http://purl.obolibrary.org/obo/GO_0045988 | negative regulation of striated muscle contraction |
| http://purl.obolibrary.org/obo/CHEBI_131604 | Mycoplasma genitalium metabolite |
| http://purl.obolibrary.org/obo/CHEBI_76969 | bacterial metabolite |
| http://purl.obolibrary.org/obo/CHEBI_35291 | all-trans-retinoate |
| http://purl.obolibrary.org/obo/CHEBI_15036 | retinoate |
| http://purl.obolibrary.org/obo/UBERON_0002072 | hypodermis |
| http://purl.obolibrary.org/obo/UBERON_0002073 | hair follicle |
| http://purl.obolibrary.org/obo/UBERON_0036150 | skin appendage follicle |
| http://purl.obolibrary.org/obo/UBERON_0002074 | hair shaft |
| HP:0004552 | Scarring alopecia of scalp |
| HP:0002293 | Alopecia of scalp |
| http://purl.obolibrary.org/obo/UBERON_0002076 | cuticle of hair |
| http://purl.obolibrary.org/obo/UBERON_0000119 | cell layer |
| http://purl.obolibrary.org/obo/UBERON_0002077 | cortex of hair |
| http://purl.obolibrary.org/obo/UBERON_0002078 | right cardiac atrium |
| http://purl.obolibrary.org/obo/UBERON_0002079 | left cardiac atrium |
| HP:0004557 | Anterior vertebral fusion |
| HP:0004558 | Cervical platyspondyly |
| HP:0004554 | Generalized hypertrichosis |
| http://purl.obolibrary.org/obo/UBERON_0002084 | heart left ventricle |
| http://purl.obolibrary.org/obo/UBERON_0002085 | interatrial septum |
| HP:0004562 | Beaking of vertebral bodies T12-L3 |
| HP:0004563 | Increased spinal bone density |
| HP:0004330 | Increased skull ossification |
| http://purl.obolibrary.org/obo/UBERON_0002089 | thoracodorsal vein |
| HP:0004565 | Severe platyspondyly |
| http://purl.obolibrary.org/obo/UBERON_0002080 | heart right ventricle |
| http://purl.obolibrary.org/obo/UBERON_0002081 | cardiac atrium |
| HP:0004566 | Pear-shaped vertebrae |
| http://purl.obolibrary.org/obo/UBERON_0002082 | cardiac ventricle |
| http://www.informatics.jax.org/marker/MGI:106201 | Tmed1 (mouse) |
| HP:0004571 | Widening of cervical spinal canal |
| http://purl.obolibrary.org/obo/UBERON_0002094 | interventricular septum |
| HP:0004573 | Anterior wedging of T11 |
| http://purl.obolibrary.org/obo/UBERON_0002097 | skin of body |
| HP:0004575 | Fusion of midcervical facet joints |
| http://purl.obolibrary.org/obo/UBERON_0002090 | postcranial axial skeleton |
| HP:0004576 | Sclerotic vertebral endplates |
| http://purl.obolibrary.org/obo/UBERON_0002091 | appendicular skeleton |
| http://purl.obolibrary.org/obo/UBERON_0002093 | spinal dura mater |
| HP:0004582 | Irregularity of vertebral bodies |
| HP:0004580 | Anterior scalloping of vertebral bodies |
| HP:0004581 | Increased anterior vertebral height |
| HP:0004570 | Increased vertebral height |
| HP:0004589 | Dysplasia of second lumbar vertebra |
| http://purl.obolibrary.org/obo/UBERON_0004699 | outflow tract endothelium |
| http://purl.obolibrary.org/obo/UBERON_0004698 | vena cava endothelium |
| http://purl.obolibrary.org/obo/UBERON_0002037 | cerebellum |
| http://purl.obolibrary.org/obo/UBERON_0002038 | substantia nigra |
| http://purl.obolibrary.org/obo/UBERON_0009661 | midbrain nucleus |
| http://purl.obolibrary.org/obo/UBERON_0002032 | areola |
| http://purl.obolibrary.org/obo/UBERON_0002033 | arrector muscle of hair |
| http://purl.obolibrary.org/obo/UBERON_0004696 | venous system smooth muscle |
| HP:0004510 | Pancreatic islet-cell hyperplasia |
| HP:0012094 | Abnormal pancreas size |
| http://purl.obolibrary.org/obo/UBERON_0004692 | external naris epithelium |
| HP:0004528 | Generalized hypotrichosis |
| HP:0004529 | Atrophic, patchy alopecia |
| HP:0002232 | Patchy alopecia |
| http://purl.obolibrary.org/obo/UBERON_0002047 | pontine raphe nucleus |
| http://purl.obolibrary.org/obo/UBERON_0002048 | lung |
| http://purl.obolibrary.org/obo/UBERON_0000171 | respiration organ |
| http://purl.obolibrary.org/obo/UBERON_0002040 | bronchial artery |
| http://purl.obolibrary.org/obo/UBERON_0002046 | thyroid gland |
| HP:0004524 | Temporal hypotrichosis |
| HP:0004527 | Large clumps of pigment irregularly distributed along hair shaft |
| HP:0002220 | Melanin pigment aggregation in hair shafts |
| http://purl.obolibrary.org/obo/GO_0043255 | regulation of carbohydrate biosynthetic process |
| HP:0004523 | Long eyebrows |
| http://purl.obolibrary.org/obo/UBERON_0002058 | main ciliary ganglion |
| http://purl.obolibrary.org/obo/UBERON_0002059 | submandibular ganglion |
| http://purl.obolibrary.org/obo/UBERON_0002052 | adrenal gland capsule |
| http://purl.obolibrary.org/obo/UBERON_0002056 | inferior suprarenal artery |
| http://purl.obolibrary.org/obo/UBERON_0005624 | suprarenal artery |
| HP:0004535 | Anterior cervical hypertrichosis |
| HP:0004532 | Sacral hypertrichosis |
| http://purl.obolibrary.org/obo/GO_0070859 | positive regulation of bile acid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0070858 | negative regulation of bile acid biosynthetic process |
| http://purl.obolibrary.org/obo/UBERON_0002069 | stratum granulosum of epidermis |
| http://purl.obolibrary.org/obo/UBERON_0002061 | truncus arteriosus |
| http://purl.obolibrary.org/obo/UBERON_0002062 | endocardial cushion |
| http://purl.obolibrary.org/obo/UBERON_0009751 | cardiac mesenchyme |
| HP:0004540 | Congenital, generalized hypertrichosis |
| http://purl.obolibrary.org/obo/UBERON_0002063 | sinus venosus |
| http://purl.obolibrary.org/obo/UBERON_0002067 | dermis |
| http://purl.obolibrary.org/obo/UBERON_0002068 | urachus |
| http://purl.obolibrary.org/obo/GO_0070857 | regulation of bile acid biosynthetic process |
| http://purl.obolibrary.org/obo/UBERON_0002060 | femoral artery |
| http://purl.obolibrary.org/obo/CHEBI_62803 | fuel additive |
| http://purl.obolibrary.org/obo/CHEBI_25899 | pentitol |
| http://purl.obolibrary.org/obo/UBERON_0004657 | mandible condylar process |
| HP:0100333 | Unilateral cleft lip |
| HP:0100334 | Unilateral cleft palate |
| HP:0100337 | Bilateral cleft palate |
| HP:0100336 | Bilateral cleft lip |
| HP:0100335 | Non-midline cleft lip |
| HP:0100338 | Non-midline cleft palate |
| http://purl.obolibrary.org/obo/CHEBI_35219 | plant growth retardant |
| http://purl.obolibrary.org/obo/UBERON_0004652 | humerus diaphysis |
| http://purl.obolibrary.org/obo/UBERON_0004650 | tongue keratinized epithelium |
| http://purl.obolibrary.org/obo/UBERON_0012329 | keratinized stratified squamous epithelium |
| http://purl.obolibrary.org/obo/CHEBI_23229 | chromanol |
| http://purl.obolibrary.org/obo/CHEBI_23230 | chromanes |
| http://purl.obolibrary.org/obo/UBERON_0004668 | fourth ventricle aperture |
| http://purl.obolibrary.org/obo/UBERON_0004666 | interventricular septum membranous part |
| http://purl.obolibrary.org/obo/UBERON_0004665 | muscular coat of seminal vesicle |
| HP:0100320 | Rosenthal fibers |
| http://purl.obolibrary.org/obo/UBERON_0002004 | trunk of sciatic nerve |
| HP:0100322 | Aplasia of the pyramidal tract |
| http://purl.obolibrary.org/obo/UBERON_0002005 | enteric nervous system |
| http://purl.obolibrary.org/obo/UBERON_0002006 | cortex of lymph node |
| HP:0100324 | Scleroderma |
| http://purl.obolibrary.org/obo/UBERON_0002007 | medulla of lymph node |
| http://purl.obolibrary.org/obo/PR_000047430 | PR:000047430 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/GO_0031268 | pseudopodium organization |
| http://purl.obolibrary.org/obo/UBERON_0002008 | cardiac nerve plexus |
| HP:0100328 | Carpometacarpal synostosis |
| HP:0100327 | Cow milk allergy |
| HP:0100329 | Tarsometatarsal synostosis |
| http://purl.obolibrary.org/obo/UBERON_0002001 | joint of rib |
| http://purl.obolibrary.org/obo/UBERON_0004664 | aorta tunica adventitia |
| http://purl.obolibrary.org/obo/UBERON_0004663 | aorta wall |
| http://purl.obolibrary.org/obo/UBERON_0004660 | mandible coronoid process |
| http://purl.obolibrary.org/obo/UBERON_0004679 | dentate gyrus molecular layer |
| http://purl.obolibrary.org/obo/UBERON_0002304 | layer of dentate gyrus |
| HP:0100311 | Cerebral ventricular adhesions |
| http://purl.obolibrary.org/obo/UBERON_0002016 | pulmonary vein |
| HP:0100310 | Epidural hemorrhage |
| HP:0100313 | Cerebral granulomatosis |
| HP:0100312 | Cerebral germinoma |
| HP:0100620 | Germinoma |
| http://purl.obolibrary.org/obo/UBERON_0002019 | accessory XI nerve |
| HP:0100315 | Lewy bodies |
| http://purl.obolibrary.org/obo/CHEBI_50846 | immunomodulator |
| HP:0100317 | Argyrophilic inclusion bodies |
| HP:0100316 | Hirano bodies |
| HP:0100319 | Cerebral hyaline bodies |
| HP:0100318 | Lafora bodies |
| http://purl.obolibrary.org/obo/UBERON_0002011 | thoracodorsal artery |
| http://purl.obolibrary.org/obo/UBERON_0002012 | pulmonary artery |
| http://purl.obolibrary.org/obo/CHEBI_35237 | cysteine zwitterion |
| http://purl.obolibrary.org/obo/UBERON_0004688 | costo-cervical trunk |
| http://purl.obolibrary.org/obo/UBERON_0002025 | stratum basale of epidermis |
| http://purl.obolibrary.org/obo/UBERON_0002026 | stratum spinosum of epidermis |
| HP:0100300 | Desmin bodies |
| http://purl.obolibrary.org/obo/UBERON_0002027 | stratum corneum of epidermis |
| http://purl.obolibrary.org/obo/UBERON_0003055 | periderm |
| http://purl.obolibrary.org/obo/CHEBI_23240 | chromophore |
| http://purl.obolibrary.org/obo/CHEBI_52215 | photochemical role |
| http://purl.obolibrary.org/obo/UBERON_0002028 | hindbrain |
| HP:0100302 | Muscle fiber tubuloreticular inclusions |
| http://purl.obolibrary.org/obo/UBERON_0002029 | epithelium of gall bladder |
| HP:0100301 | Muscle fiber tubular inclusions |
| HP:0100304 | Muscle fiber intranuclear inclusion bodies |
| http://purl.obolibrary.org/obo/CHEBI_50857 | anti-allergic agent |
| HP:0100306 | Muscle fiber hyaline bodies |
| HP:0100305 | Ring fibers |
| HP:0100308 | Cerebral cortical hemiatrophy |
| HP:0100307 | Cerebellar hemisphere hypoplasia |
| HP:0100309 | Subdural hemorrhage |
| http://purl.obolibrary.org/obo/CHEBI_35223 | catalyst |
| http://purl.obolibrary.org/obo/UBERON_0004684 | raphe nuclei |
| http://purl.obolibrary.org/obo/UBERON_0004681 | vestibular system |
| http://purl.obolibrary.org/obo/CHEBI_35221 | antimetabolite |
| http://purl.obolibrary.org/obo/UBERON_0004617 | lumbar vertebra 1 |
| http://purl.obolibrary.org/obo/UBERON_0004615 | mammalian cervical vertebra 6 |
| http://purl.obolibrary.org/obo/UBERON_0004614 | mammalian cervical vertebra 5 |
| http://purl.obolibrary.org/obo/UBERON_0004613 | mammalian cervical vertebra 4 |
| http://purl.obolibrary.org/obo/UBERON_0004612 | mammalian cervical vertebra 3 |
| http://purl.obolibrary.org/obo/UBERON_0002413 | cervical vertebra |
| http://purl.obolibrary.org/obo/UBERON_0004611 | rib 12 |
| http://purl.obolibrary.org/obo/UBERON_0004619 | lumbar vertebra 3 |
| http://purl.obolibrary.org/obo/UBERON_0004618 | lumbar vertebra 2 |
| HP:0004594 | Hump-shaped mound of bone in central and posterior portions of vertebral endplate |
| HP:0004590 | Hypoplastic sacrum |
| HP:0008517 | Aplasia/Hypoplasia of the sacrum |
| HP:0004591 | Disc-like vertebral bodies |
| HP:0004592 | Thoracic platyspondyly |
| http://purl.obolibrary.org/obo/CHEBI_59203 | straight-chain fatty acid anion |
| HP:0004598 | Supernumerary vertebral ossification centers |
| http://purl.obolibrary.org/obo/UBERON_0004622 | sacral vertebra 1 |
| http://purl.obolibrary.org/obo/UBERON_0004621 | lumbar vertebra 5 |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1764 | CDH5 (human) |
| http://purl.obolibrary.org/obo/UBERON_0004620 | lumbar vertebra 4 |
| http://purl.obolibrary.org/obo/UBERON_0002414 | lumbar vertebra |
| http://purl.obolibrary.org/obo/CHEBI_35247 | D-serine zwitterion |
| http://www.informatics.jax.org/marker/MGI:98282 | Spi1 (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_35243 | serine zwitterion |
| http://purl.obolibrary.org/obo/UBERON_0004637 | otic capsule |
| http://purl.obolibrary.org/obo/CHEBI_62868 | hepatoprotective agent |
| http://www.informatics.jax.org/marker/MGI:98279 | Sell (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0016611 | auditory hillocks, pharyngeal arch 1 derived |
| http://purl.obolibrary.org/obo/UBERON_0016612 | auditory hillocks, pharyngeal arch 2 derived |
| http://purl.obolibrary.org/obo/CHEBI_59226 | N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucose |
| http://purl.obolibrary.org/obo/CHEBI_59266 | amino trisaccharide |
| http://purl.obolibrary.org/obo/UBERON_0004649 | sphenoid bone pterygoid process |
| http://purl.obolibrary.org/obo/UBERON_0004647 | liver lobule |
| http://purl.obolibrary.org/obo/UBERON_0004646 | infraorbital artery |
| http://purl.obolibrary.org/obo/CHEBI_59238 | cyclic fatty acid |
| http://purl.obolibrary.org/obo/UBERON_0004641 | spleen capsule |
| http://purl.obolibrary.org/obo/PR_P07766 | T-cell surface glycoprotein CD3 epsilon chain (human) |
| http://purl.obolibrary.org/obo/CHEBI_25805 | oxygen atom |
| http://purl.obolibrary.org/obo/CHEBI_13850 | apoprotein |
| HP:0100391 | Short distal phalanx of the 5th toe |
| HP:0100390 | Short distal phalanx of the 4th toe |
| HP:0100393 | Short middle phalanx of the 4th toe |
| HP:0100392 | Short middle phalanx of the 3rd toe |
| HP:0100395 | Short proximal phalanx of the 3rd toe |
| HP:0100394 | Short middle phalanx of the 5th toe |
| HP:0100397 | Short proximal phalanx of the 5th toe |
| HP:0100396 | Short proximal phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/CL_0005012 | multi-ciliated epithelial cell |
| HP:0100380 | Aplasia of the distal phalanx of the 5th toe |
| HP:0100382 | Aplasia of the middle phalanx of the 4th toe |
| HP:0100381 | Absent middle phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/UBERON_0004601 | rib 1 |
| HP:0100384 | Absent proximal phalanx of the 3rd toe |
| HP:0100383 | Aplasia of the middle phalanx of the 5th toe |
| HP:0100386 | Aplasia of the proximal phalanx of the 5th toe |
| HP:0100385 | Aplasia of the proximal phalanx of the 4th toe |
| HP:0100388 | Aplasia of the proximal phalanges of the toes |
| HP:0100387 | Aplasia of the middle phalanges of the toes |
| HP:0100389 | Short distal phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/CHEBI_84196 | 3-hydroxy fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_37808 | butane |
| http://purl.obolibrary.org/obo/PR_P07724 | serum albumin (mouse) |
| HP:0100371 | Aplasia/Hypoplasia of the distal phalanx of the 5th toe |
| http://purl.obolibrary.org/obo/GO_0006282 | regulation of DNA repair |
| http://purl.obolibrary.org/obo/GO_2001020 | regulation of response to DNA damage stimulus |
| http://purl.obolibrary.org/obo/GO_0080135 | regulation of cellular response to stress |
| HP:0100373 | Aplasia/Hypoplasia of the middle phalanx of the 4th toe |
| HP:0100372 | Aplasia/Hypoplasia of the middle phalanx of the 3rd toe |
| HP:0100375 | Aplasia/hypoplasia of the proximal phalanx of the 3rd toe |
| HP:0100374 | Aplasia/Hypoplasia of the middle phalanx of the 5th toe |
| HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes |
| HP:0100377 | Aplasia/hypoplasia of the proximal phalanx of the 5th toe |
| HP:0100376 | Aplasia/hypoplasia of the proximal phalanx of the 4th toe |
| HP:0010203 | Aplasia/hypoplasia of proximal toe phalanx |
| HP:0100379 | Aplasia of the distal phalanx of the 4th toe |
| HP:0100370 | Aplasia/Hypoplasia of the distal phalanx of the 4th toe |
| HP:0100378 | Absent distal phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/CHEBI_37838 | carboacyl group |
| HP:0100362 | Aplasia of the phalanges of the 3rd toe |
| HP:0100364 | Aplasia of the phalanges of the 5th toe |
| HP:0100363 | Aplasia of the phalanges of the 4th toe |
| HP:0100366 | Short phalanx of the 3rd toe |
| HP:0100368 | Short phalanx of the 5th toe |
| HP:0010343 | Aplasia/Hypoplasia of the 5th toe |
| HP:0010383 | Aplasia/Hypoplasia of the phalanges of the 5th toe |
| HP:0100367 | Short phalanx of the 4th toe |
| HP:0010337 | Aplasia/Hypoplasia of the 4th toe |
| HP:0010371 | Aplasia/Hypoplasia of the phalanges of the 4th toe |
| HP:0100369 | Aplasia/Hypoplasia of the distal phalanx of the 3rd toe |
| HP:0010359 | Aplasia/Hypoplasia of the phalanges of the 3rd toe |
| HP:0010331 | Aplasia/Hypoplasia of the 3rd toe |
| http://purl.obolibrary.org/obo/CL_0005026 | hepatoblast |
| http://purl.obolibrary.org/obo/CL_0005022 | vascular lymphangioblast |
| http://purl.obolibrary.org/obo/CL_0005020 | lymphangioblast |
| HP:0100351 | Contractures of the proximal interphalangeal joint of the 5th toe |
| HP:0100350 | Contracture of the proximal interphalangeal joint of the 4th toe |
| HP:0100353 | Contracture of the distal interphalangeal joint of the 3rd toe |
| HP:0100352 | Contracture of the distal interphalangeal joint of the 2nd toe |
| HP:0100355 | Contractures of the distal interphalangeal joint of the 5th toe |
| HP:0100354 | Contracture of the distal interphalangeal joint of the 4th toe |
| HP:0100357 | Contracture of the metatarsophalangeal joint of the 3rd toe |
| HP:0100356 | Contracture of the metatarsophalangeal joint of the 2nd toe |
| HP:0100359 | Contracture of the metatarsophalangeal joint of the 5th toe |
| HP:0010345 | Flexion contracture of the 5th toe |
| HP:0100358 | Contracture of the metatarsophalangeal joint of the 4th toe |
| HP:0010339 | Flexion contracture of the 4th toe |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1709 | CD9 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1706 | CD8A (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=1707 | CD8B (human) |
| HP:0100340 | Fibular deviation of the 4th toe |
| HP:0100342 | Fibular deviation of the 3rd toe |
| HP:0100341 | Tibial deviation of the 4th toe |
| HP:0100344 | Fibular deviation of the 2nd toe |
| HP:0100343 | Tibial deviation of the 3rd toe |
| HP:0100346 | Fibular deviation of the 5th toe |
| HP:0100345 | Tibial deviation of the 2nd toe |
| HP:0100348 | Contracture of the proximal interphalangeal joint of the 2nd toe |
| HP:0010327 | Flexion contracture of the 2nd toe |
| HP:0100347 | Tibial deviation of the 5th toe |
| HP:0100349 | Contracture of the proximal interphalangeal joint of the 3rd toe |
| HP:0010333 | Flexion contracture of 3rd toe |
| http://purl.obolibrary.org/obo/GO_0043230 | extracellular organelle |
| http://purl.obolibrary.org/obo/PR_P05186 | alkaline phosphatase, tissue-nonspecific isozyme (human) |
| http://purl.obolibrary.org/obo/GO_0043209 | myelin sheath |
| http://purl.obolibrary.org/obo/PR_P32754 | 4-hydroxyphenylpyruvate dioxygenase (human) |
| HP:0004502 | Bilateral choanal atresia |
| http://purl.obolibrary.org/obo/GO_0045840 | positive regulation of mitotic nuclear division |
| http://purl.obolibrary.org/obo/GO_0045931 | positive regulation of mitotic cell cycle |
| http://purl.obolibrary.org/obo/GO_0045836 | positive regulation of meiotic nuclear division |
| http://purl.obolibrary.org/obo/GO_0045839 | negative regulation of mitotic nuclear division |
| http://purl.obolibrary.org/obo/GO_0045930 | negative regulation of mitotic cell cycle |
| http://purl.obolibrary.org/obo/GO_0045835 | negative regulation of meiotic nuclear division |
| http://purl.obolibrary.org/obo/GO_0040020 | regulation of meiotic nuclear division |
| http://purl.obolibrary.org/obo/GO_0045828 | positive regulation of isoprenoid metabolic process |
| http://purl.obolibrary.org/obo/GO_0045827 | negative regulation of isoprenoid metabolic process |
| http://purl.obolibrary.org/obo/GO_0045820 | negative regulation of glycolytic process |
| http://purl.obolibrary.org/obo/GO_1903579 | negative regulation of ATP metabolic process |
| http://purl.obolibrary.org/obo/GO_1900543 | negative regulation of purine nucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_0045980 | negative regulation of nucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_0042326 | negative regulation of phosphorylation |
| http://purl.obolibrary.org/obo/GO_0045822 | negative regulation of heart contraction |
| http://purl.obolibrary.org/obo/GO_1903523 | negative regulation of blood circulation |
| http://purl.obolibrary.org/obo/GO_0045821 | positive regulation of glycolytic process |
| http://purl.obolibrary.org/obo/GO_0006110 | regulation of glycolytic process |
| http://purl.obolibrary.org/obo/GO_1900544 | positive regulation of purine nucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_0045981 | positive regulation of nucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_1900542 | regulation of purine nucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_0006140 | regulation of nucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_0031331 | positive regulation of cellular catabolic process |
| http://purl.obolibrary.org/obo/GO_0042327 | positive regulation of phosphorylation |
| http://purl.obolibrary.org/obo/GO_1903580 | positive regulation of ATP metabolic process |
| http://purl.obolibrary.org/obo/GO_1903578 | regulation of ATP metabolic process |
| http://purl.obolibrary.org/obo/GO_0045823 | positive regulation of heart contraction |
| http://purl.obolibrary.org/obo/GO_1903524 | positive regulation of blood circulation |
| http://purl.obolibrary.org/obo/GO_0008016 | regulation of heart contraction |
| http://purl.obolibrary.org/obo/GO_1903522 | regulation of blood circulation |
| http://purl.obolibrary.org/obo/GO_0006206 | pyrimidine nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0072527 | pyrimidine-containing compound metabolic process |
| HP:0002010 | Narrow maxilla |
| HP:0004679 | Large tarsal bones |
| HP:0002019 | Constipation |
| HP:0002018 | Nausea |
| HP:0004676 | Prominent supraorbital arches in adult |
| HP:0004681 | Deep longitudinal plantar crease |
| HP:0002020 | Gastroesophageal reflux |
| HP:0004684 | Talipes valgus |
| HP:0002021 | Pyloric stenosis |
| HP:0004400 | Abnormality of the pylorus |
| HP:0004689 | Short fourth metatarsal |
| HP:0002028 | Chronic diarrhea |
| HP:0002023 | Anal atresia |
| HP:0004686 | Short third metatarsal |
| HP:0004688 | Irregular tarsal bones |
| HP:0002025 | Anal stenosis |
| HP:0002033 | Poor suck |
| HP:0004695 | Calcaneal epiphyseal stippling |
| HP:0002032 | Esophageal atresia |
| HP:0004690 | Thickened Achilles tendon |
| HP:0002039 | Anorexia |
| HP:0002038 | Protein avoidance |
| HP:0004696 | Talipes cavus equinovarus |
| HP:0002035 | Rectal prolapse |
| HP:0002037 | Inflammation of the large intestine |
| HP:0004699 | Osteoporotic metatarsal |
| HP:0002036 | Hiatus hernia |
| HP:0002041 | Intractable diarrhea |
| HP:0002044 | Zollinger-Ellison syndrome |
| HP:0002043 | Esophageal stricture |
| HP:0010450 | Esophageal stenosis |
| HP:0002040 | Esophageal varix |
| HP:0002049 | Proximal renal tubular acidosis |
| HP:0002046 | Heat intolerance |
| HP:0002048 | Renal cortical atrophy |
| HP:0012585 | Renal atrophy |
| HP:0002047 | Malignant hyperthermia |
| http://purl.obolibrary.org/obo/UBERON_0016552 | phlegm |
| http://purl.obolibrary.org/obo/UBERON_0016553 | respiratory system mucus |
| http://purl.obolibrary.org/obo/UBERON_0000912 | mucus |
| HP:0004639 | Elevated amniotic fluid alpha-fetoprotein |
| http://purl.obolibrary.org/obo/UBERON_0016554 | white matter of midbrain |
| http://purl.obolibrary.org/obo/GO_0006600 | creatine metabolic process |
| HP:0004634 | Cuboid-shaped vertebral bodies |
| HP:0004635 | Cervical C5/C6 vertebrae fusion |
| HP:0004637 | Decreased cervical spine mobility |
| http://purl.obolibrary.org/obo/UBERON_0004572 | arterial system |
| HP:0004630 | Anterior beaking of thoracic vertebrae |
| http://purl.obolibrary.org/obo/UBERON_0004571 | systemic arterial system |
| HP:0004631 | Decreased cervical spine flexion due to contractures of posterior cervical muscles |
| HP:0004632 | Cervical segmentation defect |
| HP:0004633 | Lower thoracic kyphosis |
| http://purl.obolibrary.org/obo/UBERON_0016565 | cerebral blood vessel |
| HP:0004646 | Hypoplasia of the nasal bone |
| http://purl.obolibrary.org/obo/UBERON_0004581 | systemic venous system |
| http://purl.obolibrary.org/obo/UBERON_0016570 | lamina of gray matter of spinal cord |
| HP:0002009 | Potter facies |
| HP:0004660 | Hypoplasia of facial musculature |
| HP:0002000 | Short columella |
| HP:0004661 | Frontalis muscle weakness |
| HP:0002006 | Facial cleft |
| HP:0002007 | Frontal bossing |
| HP:0002002 | Deep philtrum |
| HP:0004664 | Facial midline hemangioma |
| HP:0002003 | Large forehead |
| http://purl.obolibrary.org/obo/UBERON_0004539 | right kidney |
| http://www.informatics.jax.org/marker/MGI:106185 | Ccr2 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0004538 | left kidney |
| http://purl.obolibrary.org/obo/UBERON_0002113 | kidney |
| HP:0100450 | Curved distal phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/UBERON_0004534 | right testis |
| http://purl.obolibrary.org/obo/UBERON_0016510 | epithelium of male urethra |
| http://purl.obolibrary.org/obo/UBERON_0004533 | left testis |
| http://purl.obolibrary.org/obo/UBERON_0000473 | testis |
| http://purl.obolibrary.org/obo/UBERON_0000991 | gonad |
| HP:0100452 | Osteolytic defects of the middle phalanx of the 3rd toe |
| HP:0100451 | Curved distal phalanx of the 5th toe |
| HP:0100454 | Osteolytic defects of the middle phalanx of the 5th toe |
| HP:0100453 | Osteolytic defects of the middle phalanx of the 4th toe |
| HP:0100456 | Osteolytic defects of the proximal phalanx of the 4th toe |
| HP:0100455 | Osteolytic defects of the proximal phalanx of the 3rd toe |
| HP:0100458 | Osteolytic defects of the distal phalanx of the 3rd toe |
| HP:0010363 | Osteolytic defects of the phalanges of the 3rd toe |
| HP:0100457 | Osteolytic defects of the proximal phalanx of the 5th toe |
| HP:0100459 | Osteolytic defects of the distal phalanx of the 4th toe |
| HP:0010375 | Osteolytic defects of the phalanges of the 4th toe |
| HP:0002099 | Asthma |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0004890 | Elevated pulmonary artery pressure |
| http://purl.obolibrary.org/obo/UBERON_0016512 | lumen of duodenum |
| http://purl.obolibrary.org/obo/UBERON_0016513 | cavity of left atrium |
| http://purl.obolibrary.org/obo/UBERON_0016514 | cavity of left ventricle |
| http://purl.obolibrary.org/obo/UBERON_0016517 | lumen of jejunum |
| http://purl.obolibrary.org/obo/UBERON_0004549 | right eye |
| http://purl.obolibrary.org/obo/UBERON_0004548 | left eye |
| http://purl.obolibrary.org/obo/UBERON_0016520 | epithelium of female urethra |
| http://purl.obolibrary.org/obo/UBERON_0002325 | epithelium of urethra |
| http://purl.obolibrary.org/obo/UBERON_0004544 | epididymis epithelium |
| http://purl.obolibrary.org/obo/UBERON_0016522 | cavity of right atrium |
| HP:0100441 | Bullet-shaped distal phalanx of the 4th toe |
| HP:0100440 | Bullet-shaped distal phalanx of the 3rd toe |
| HP:0100443 | Curved middle phalanx of the 3rd toe |
| HP:0100442 | Bullet-shaped distal phalanx of the 5th toe |
| HP:0100445 | Curved middle phalanx of the 5th toe |
| HP:0100444 | Curved middle phalanx of the 4th toe |
| HP:0010197 | Curved middle toe phalanx |
| HP:0100447 | Curved proximal phalanx of the 4th toe |
| HP:0010374 | Curved 4th toe phalanx |
| HP:0100446 | Curved proximal phalanx of the 3rd toe |
| HP:0100449 | Curved distal phalanx of the 3rd toe |
| HP:0010188 | Curved distal toe phalanx |
| HP:0010362 | Curved 3rd toe phalanx |
| HP:0100448 | Curved proximal phalanx of the 5th toe |
| HP:0010206 | Curved proximal toe phalanx |
| HP:0010386 | Curved 5th toe phalanx |
| HP:0010176 | Curved toe phalanx |
| http://purl.obolibrary.org/obo/UBERON_0016525 | frontal lobe |
| http://purl.obolibrary.org/obo/UBERON_0016528 | white matter of frontal lobe |
| http://purl.obolibrary.org/obo/UBERON_0016530 | parietal cortex |
| http://purl.obolibrary.org/obo/UBERON_0016531 | white matter of parietal lobe |
| http://purl.obolibrary.org/obo/CHEBI_60525 | molybdenum cofactor(2-) |
| http://purl.obolibrary.org/obo/CHEBI_64775 | organic anionic group |
| http://purl.obolibrary.org/obo/CHEBI_64767 | anionic group |
| HP:0100430 | Broad proximal phalanx of the 5th toe |
| HP:0100432 | Broad distal phalanx of the 4th toe |
| HP:0100431 | Broad distal phalanx of the 3rd toe |
| HP:0100434 | Bullet-shaped middle phalanx of the 3rd toe |
| HP:0100433 | Broad distal phalanx of the 5th toe |
| HP:0010186 | Broad distal phalanx of the toes |
| HP:0100436 | Bullet-shaped middle phalanx of the 5th toe |
| HP:0100435 | Bullet-shaped middle phalanx of the 4th toe |
| HP:0100438 | Bullet-shaped proximal phalanx of the 4th toe |
| HP:0010373 | Bullet-shaped 4th toe phalanx |
| HP:0100437 | Bullet-shaped proximal phalanx of the 3rd toe |
| HP:0010361 | Bullet-shaped 3rd toe phalanx |
| HP:0100439 | Bullet-shaped proximal phalanx of the 5th toe |
| HP:0010205 | Bullet-shaped proximal toe phalanx |
| HP:0010385 | Bullet-shaped 5th toe phalanx |
| HP:0010175 | Bullet-shaped toe phalanx |
| http://purl.obolibrary.org/obo/UBERON_0004554 | hindlimb digital artery |
| http://purl.obolibrary.org/obo/UBERON_0016534 | white matter of temporal lobe |
| http://purl.obolibrary.org/obo/UBERON_0004553 | forelimb digital artery |
| http://purl.obolibrary.org/obo/UBERON_0004552 | digital artery |
| http://purl.obolibrary.org/obo/UBERON_0016536 | white matter of limbic lobe |
| http://purl.obolibrary.org/obo/UBERON_0016527 | white matter of cerebral lobe |
| http://purl.obolibrary.org/obo/UBERON_0016538 | temporal cortex |
| http://purl.obolibrary.org/obo/PR_O73727 | insulin (zebrafish) |
| http://purl.obolibrary.org/obo/UBERON_0016542 | limbic cortex |
| HP:0100421 | Partial duplication of the middle phalanx of the 5th toe |
| HP:0100420 | Partial duplication of the middle phalanx of the 4th toe |
| HP:0100423 | Partial duplication of the proximal phalanx of the 4th toe |
| HP:0100422 | Partial duplication of the proximal phalanx of the 3rd toe |
| HP:0100425 | Broad middle phalanx of the 3rd toe |
| HP:0100424 | Partial duplication of the proximal phalanx of the 5th toe |
| HP:0100427 | Broad middle phalanx of the 5th toe |
| HP:0010384 | Broad phalanges of the 5th toe |
| HP:0100426 | Broad middle phalanx of the 4th toe |
| HP:0010195 | Broad middle phalanges of the toes |
| HP:0100429 | Broad proximal phalanx of the 4th toe |
| HP:0010372 | Broad phalanges of the 4th toe |
| HP:0100428 | Broad proximal phalanx of the 3rd toe |
| HP:0010204 | Broad proximal phalanx of toe |
| HP:0010360 | Broad phalanges of the 3rd toe |
| HP:0010174 | Broad phalanx of the toes |
| http://purl.obolibrary.org/obo/CHEBI_35586 | 1H-purine |
| http://purl.obolibrary.org/obo/CHEBI_59558 | medium-chain fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_35588 | 3H-purine |
| http://purl.obolibrary.org/obo/CHEBI_35589 | 9H-purine |
| http://purl.obolibrary.org/obo/UBERON_0016549 | central nervous system white matter layer |
| http://purl.obolibrary.org/obo/CHEBI_59554 | medium-chain fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_35584 | purine |
| http://purl.obolibrary.org/obo/CHEBI_35570 | mancude organic heterobicyclic parent |
| http://purl.obolibrary.org/obo/CHEBI_35571 | mancude organic heterocyclic parent |
| http://purl.obolibrary.org/obo/CHEBI_35573 | organic mancude parent |
| http://purl.obolibrary.org/obo/CHEBI_35568 | mancude ring |
| http://purl.obolibrary.org/obo/CHEBI_59561 | diamino acid anion |
| HP:0100410 | Complete duplication of the middle phalanx of the 3rd toe |
| HP:0100412 | Complete duplication of the middle phalanx of the 5th toe |
| HP:0100411 | Complete duplication of the middle phalanx of the 4th toe |
| HP:0100414 | Complete duplication of the proximal phalanx of the 4th toe |
| HP:0100413 | Complete duplication of the proximal phalanx of the 3rd toe |
| HP:0100416 | Partial duplication of the distal phalanx of the 3rd toe |
| HP:0100415 | Complete duplication of the proximal phalanx of the 5th toe |
| HP:0100418 | Partial duplication of the distal phalanx of the 5th toe |
| HP:0002055 | Curved linear dimple below the lower lip |
| HP:0000178 | Abnormality of lower lip |
| HP:0002054 | Heavy supraorbital ridges |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0100417 | Partial duplication of the distal phalanx of the 4th toe |
| HP:0100419 | Partial duplication of the middle phalanx of the 3rd toe |
| HP:0002050 | Macroorchidism, postpubertal |
| HP:0002057 | Prominent glabella |
| HP:0002058 | Myopathic facies |
| http://purl.obolibrary.org/obo/UBERON_0004507 | skeletal muscle tissue of temporalis |
| http://purl.obolibrary.org/obo/UBERON_0004506 | skeletal muscle tissue of masseter |
| http://purl.obolibrary.org/obo/UBERON_0004505 | skeletal muscle tissue of orbicularis oculi |
| http://purl.obolibrary.org/obo/UBERON_0004504 | skeletal muscle tissue of mylohyoid |
| http://purl.obolibrary.org/obo/UBERON_0004503 | skeletal muscle tissue of digastric |
| http://purl.obolibrary.org/obo/UBERON_0004502 | skeletal muscle tissue of biceps brachii |
| http://purl.obolibrary.org/obo/UBERON_0004500 | skeletal muscle tissue of deltoid |
| HP:0100401 | Duplication of the middle phalanx of the 3rd toe |
| HP:0100403 | Duplication of the middle phalanx of the 5th toe |
| HP:0010202 | Duplication of middle phalanx of toe |
| http://purl.obolibrary.org/obo/UBERON_0004509 | skeletal muscle tissue of trapezius |
| HP:0100402 | Duplication of the middle phalanx of the 4th toe |
| http://purl.obolibrary.org/obo/UBERON_0004508 | skeletal muscle tissue of levator palpebrae superioris |
| HP:0002064 | Spastic gait |
| HP:0100405 | Duplication of the proximal phalanx of the 4th toe |
| HP:0010382 | Abnormality of the proximal phalanx of the 4th toe |
| HP:0100404 | Duplication of the proximal phalanx of the 3rd toe |
| HP:0010211 | Duplication of proximal phalanx of toe |
| HP:0100407 | Complete duplication of the distal phalanx of the 3rd toe |
| HP:0100398 | Duplication of the distal phalanx of the 3rd toe |
| HP:0010368 | Abnormality of the distal phalanx of the 3rd toe |
| HP:0010367 | Duplication of phalanx of the 3rd toe |
| HP:0100406 | Duplication of the proximal phalanx of the 5th toe |
| HP:0010394 | Abnormality of the proximal phalanx of the 5th toe |
| HP:0100409 | Complete duplication of the distal phalanx of the 5th toe |
| HP:0100400 | Duplication of the distal phalanx of the 5th toe |
| HP:0010391 | Duplication of the phalanges of the 5th toe |
| HP:0010392 | Abnormality of the distal phalanx of the 5th toe |
| HP:0100408 | Complete duplication of the distal phalanx of the 4th toe |
| HP:0100399 | Duplication of the distal phalanx of the 4th toe |
| HP:0010379 | Duplication of phalanx of the 4th toe |
| HP:0010380 | Abnormality of the distal phalanx of the 4th toe |
| HP:0010193 | Duplication of distal phalanx of toe |
| HP:0010181 | Duplication of phalanx of toe |
| HP:0002068 | Neuromuscular dysphagia |
| HP:0002067 | Bradykinesia |
| http://purl.obolibrary.org/obo/UBERON_0004516 | smooth muscle tissue of terminal bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0004515 | smooth muscle tissue of bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0004511 | skeletal muscle tissue of rectus abdominis |
| HP:0002080 | Intention tremor |
| http://purl.obolibrary.org/obo/UBERON_0004519 | muscle of anal triangle |
| http://purl.obolibrary.org/obo/UBERON_0002379 | perineal muscle |
| HP:0002075 | Dysdiadochokinesis |
| HP:0002074 | Increased neuronal autofluorescent lipopigment |
| HP:0002077 | Migraine with aura |
| HP:0002073 | Progressive cerebellar ataxia |
| http://purl.obolibrary.org/obo/UBERON_0004510 | skeletal muscle tissue of pectoralis major |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0012430 | Cerebral white matter hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0004528 | alveolar ridge of mandible |
| http://purl.obolibrary.org/obo/UBERON_0004527 | alveolar process of maxilla |
| HP:0002091 | Restrictive ventilatory defect |
| http://purl.obolibrary.org/obo/PR_Q64314 | hematopoietic progenitor cell antigen CD34 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0016509 | cavity of right ventricle |
| HP:0002085 | Occipital encephalocele |
| HP:0002083 | Migraine without aura |
| HP:0002076 | Migraine |
| http://purl.obolibrary.org/obo/UBERON_0004521 | vasculature of muscle organ |
| http://purl.obolibrary.org/obo/UBERON_0004522 | vasculature of musculoskeletal system |
| http://purl.obolibrary.org/obo/UBERON_0004520 | striated muscle tissue of prostate |
| HP:0002089 | Pulmonary hypoplasia |
| http://purl.obolibrary.org/obo/GO_0043504 | mitochondrial DNA repair |
| http://purl.obolibrary.org/obo/GO_0006281 | DNA repair |
| http://purl.obolibrary.org/obo/CHEBI_23509 | cysteine derivative |
| http://purl.obolibrary.org/obo/GO_0006591 | ornithine metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_23505 | cystathionines |
| http://purl.obolibrary.org/obo/CHEBI_35519 | cholane |
| http://purl.obolibrary.org/obo/CHEBI_35516 | cholestane |
| http://purl.obolibrary.org/obo/CHEBI_35509 | androstane |
| http://purl.obolibrary.org/obo/CHEBI_35508 | steroid fundamental parent |
| http://purl.obolibrary.org/obo/CHEBI_35507 | natural product fundamental parent |
| HP:0100493 | Hypoammonemia |
| HP:0100495 | Mastocytosis |
| HP:0100494 | Abnormal mast cell morphology |
| HP:0100497 | Vitamin B3 deficiency |
| HP:0100496 | Abnormality of the vitamin B3 metabolism |
| HP:0100499 | Tibial deviation of toes |
| HP:0100481 | Proximal/middle symphalangism of 4th toe |
| HP:0100480 | Proximal/middle symphalangism of 3rd toe |
| HP:0100483 | Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal |
| http://purl.obolibrary.org/obo/PR_000021169 | parathyroid hormone, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000013429 | parathyroid hormone |
| HP:0100482 | Proximal/middle symphalangism of 5th toe |
| HP:0100485 | Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal |
| HP:0100484 | Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal |
| HP:0100487 | Triangular shaped distal phalanx of the 5th toe |
| HP:0010390 | Triangular shaped phalanges of the 5th toe |
| HP:0100486 | Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal |
| HP:0010378 | Triangular shaped phalanges of the 4th toe |
| HP:0100489 | Proximal/middle symphalangism of 2nd toe |
| HP:0010401 | Symphalangism affecting the proximal phalanx of the 2nd toe |
| HP:0010358 | Abnormality of the proximal phalanx of the 2nd toe |
| HP:0010366 | Triangular shaped phalanges of the 3rd toe |
| HP:0010210 | Triangular shaped proximal phalanges of the toes |
| HP:0010180 | Triangular shaped phalanges of the toes |
| HP:0010370 | Abnormality of the proximal phalanx of the 3rd toe |
| HP:0010410 | Symphalangism affecting the middle phalanx of the 2nd toe |
| HP:0010353 | Symphalangism affecting the phalanges of the 2nd toe |
| HP:0100488 | Synostosis of the proximal phalanx of the hallux with the 1st metatarsal |
| HP:0010091 | Symphalangism affecting the proximal phalanx of the hallux |
| HP:0010200 | Symphalangism affecting the middle phalanges of the toes |
| HP:0010052 | Abnormal morphology of the proximal phalanx of the hallux |
| HP:0010064 | Symphalangism affecting the phalanges of the hallux |
| HP:0010209 | Symphalangism affecting the proximal phalanges of the toes |
| HP:0100237 | Proximal foot symphalangism |
| HP:0010073 | Synostosis involving the 1st metatarsal |
| HP:0010054 | Abnormality of the first metatarsal bone |
| http://purl.obolibrary.org/obo/CHEBI_35524 | sympathomimetic agent |
| http://purl.obolibrary.org/obo/CHEBI_35526 | hypoglycemic agent |
| http://purl.obolibrary.org/obo/CHEBI_35522 | beta-adrenergic agonist |
| http://purl.obolibrary.org/obo/CHEBI_37886 | adrenergic agonist |
| HP:0100474 | Symphalangism affecting the proximal phalanx of the 4th toe |
| HP:0100473 | Symphalangism affecting the proximal phalanx of the 3rd toe |
| http://purl.obolibrary.org/obo/GO_0031594 | neuromuscular junction |
| http://purl.obolibrary.org/obo/GO_0045202 | synapse |
| HP:0100476 | Symphalangism affecting the distal phalanx of the 3rd toe |
| HP:0100470 | Symphalangism affecting the middle phalanx of the 3rd toe |
| HP:0010365 | Symphalangism affecting the phalanges of the 3rd toe |
| HP:0100475 | Symphalangism affecting the proximal phalanx of the 5th toe |
| HP:0100478 | Symphalangism affecting the distal phalanx of the 5th toe |
| HP:0100472 | Symphalangism affecting the middle phalanx of the 5th toe |
| HP:0010389 | Symphalangism affecting the phalanges of the 5th toe |
| HP:0100477 | Symphalangism affecting the distal phalanx of the 4th toe |
| HP:0100471 | Symphalangism affecting the middle phalanx of the 4th toe |
| HP:0010377 | Symphalangism affecting the phalanges of the 4th toe |
| http://purl.obolibrary.org/obo/CHEBI_35552 | heterocyclic organic fundamental parent |
| HP:0100461 | Patchy sclerosis of the middle phalanx of the 3rd toe |
| HP:0100936 | Sclerosis of the middle phalanx of the 3rd toe |
| HP:0100460 | Osteolytic defects of the distal phalanx of the 5th toe |
| HP:0010387 | Osteolytic defects of the phalanges of the 5th toe |
| HP:0100463 | Patchy sclerosis of the middle phalanx of the 5th toe |
| HP:0100938 | Sclerosis of the middle phalanx of the 5th toe |
| HP:0100462 | Patchy sclerosis of the middle phalanx of the 4th toe |
| HP:0010199 | Patchy sclerosis of middle toe phalanx |
| HP:0100937 | Sclerosis of the middle phalanx of the 4th toe |
| HP:0100947 | Sclerosis of middle toe phalanx |
| HP:0100465 | Patchy sclerosis of the proximal phalanx of the 4th toe |
| HP:0100933 | Sclerosis of the proximal phalanx of the 4th toe |
| HP:0100464 | Patchy sclerosis of the proximal phalanx of the 3rd toe |
| HP:0100932 | Sclerosis of the proximal phalanx of the 3rd toe |
| HP:0100467 | Patchy sclerosis of the distal phalanx of the 3rd toe |
| HP:0010364 | Patchy sclerosis of 3rd toe phalanx |
| HP:0100940 | Sclerosis of the distal phalanx of the 3rd toe |
| HP:0100927 | Sclerosis of 3rd toe phalanx |
| HP:0100466 | Patchy sclerosis of the proximal phalanx of the 5th toe |
| HP:0100934 | Sclerosis of the proximal phalanx of the 5th toe |
| HP:0010208 | Patchy sclerosis of proximal toe phalanx |
| HP:0100946 | Sclerosis of proximal toe phalanx |
| HP:0100469 | Patchy sclerosis of the distal phalanx of the 5th toe |
| HP:0010388 | Patchy sclerosis of 5th toe phalanx |
| HP:0100942 | Sclerosis of the distal phalanx of the 5th toe |
| HP:0100929 | Sclerosis of 5th toe phalanx |
| HP:0100468 | Patchy sclerosis of the distal phalanx of the 4th toe |
| HP:0010190 | Patchy sclerosis of distal toe phalanx |
| HP:0010376 | Patchy sclerosis of 4th toe phalanx |
| HP:0010178 | Patchy sclerosis of toe phalanx |
| HP:0100941 | Sclerosis of the distal phalanx of the 4th toe |
| HP:0100928 | Sclerosis of 4th toe phalanx |
| HP:0100948 | Sclerosis of distal toe phalanx |
| HP:0100924 | Sclerosis of toe phalanx |
| http://purl.obolibrary.org/obo/GO_0043588 | skin development |
| HP:0004609 | Patchy distortion of vertebrae |
| HP:0004605 | Absent vertebral body mineralization |
| HP:0004606 | Unossified vertebral bodies |
| HP:0004607 | Anterior beaking of lower thoracic vertebrae |
| HP:0004608 | Anteriorly placed odontoid process |
| HP:0004601 | Spina bifida occulta at L5 |
| HP:0004602 | Cervical C2/C3 vertebral fusion |
| HP:0004603 | Hyperconvex vertebral body endplates |
| HP:0004616 | Cleft vertebral arch |
| HP:0004617 | Butterfly vertebral arch |
| HP:0004618 | Sandwich appearance of vertebral bodies |
| HP:0004619 | Lumbar kyphoscoliosis |
| HP:0008454 | Lumbar kyphosis |
| http://purl.obolibrary.org/obo/GO_0006541 | glutamine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006544 | glycine metabolic process |
| HP:0004614 | Spina bifida occulta at S1 |
| HP:0004610 | Lumbar spinal canal stenosis |
| HP:0004611 | Anterior concavity of thoracic vertebrae |
| HP:0004629 | Small cervical vertebral bodies |
| http://purl.obolibrary.org/obo/GO_0006534 | cysteine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006525 | arginine metabolic process |
| HP:0004625 | Biconvex vertebral bodies |
| HP:0004626 | Lumbar scoliosis |
| HP:0004621 | Enlarged vertebral pedicles |
| HP:0004622 | Progressive intervertebral space narrowing |
| HP:0002945 | Intervertebral space narrowing |
| http://purl.obolibrary.org/obo/GO_0006560 | proline metabolic process |
| http://purl.obolibrary.org/obo/GO_0006563 | L-serine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006566 | threonine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006568 | tryptophan metabolic process |
| http://purl.obolibrary.org/obo/GO_0006558 | L-phenylalanine metabolic process |
| http://purl.obolibrary.org/obo/GO_0043549 | regulation of kinase activity |
| http://purl.obolibrary.org/obo/GO_0042325 | regulation of phosphorylation |
| http://purl.obolibrary.org/obo/GO_0006551 | leucine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006553 | lysine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006555 | methionine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006547 | histidine metabolic process |
| http://purl.obolibrary.org/obo/GO_0052803 | imidazole-containing compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0006549 | isoleucine metabolic process |
| http://purl.obolibrary.org/obo/GO_0031514 | motile cilium |
| http://purl.obolibrary.org/obo/GO_0005929 | cilium |
| http://purl.obolibrary.org/obo/GO_0006582 | melanin metabolic process |
| http://purl.obolibrary.org/obo/GO_0006586 | indolalkylamine metabolic process |
| http://purl.obolibrary.org/obo/GO_0042430 | indole-containing compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0006570 | tyrosine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006573 | valine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006576 | cellular biogenic amine metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0016475 | skin of forehead |
| http://purl.obolibrary.org/obo/UBERON_0004491 | cardiac muscle tissue of interatrial septum |
| HP:0004791 | Esophageal ulceration |
| HP:0004792 | Rectoperineal fistula |
| HP:0002132 | Porencephalic cyst |
| HP:0004794 | Malrotation of small bowel |
| HP:0002131 | Episodic ataxia |
| HP:0004790 | Hypoplasia of the small intestine |
| HP:0002138 | Subarachnoid hemorrhage |
| http://purl.obolibrary.org/obo/UBERON_0004499 | skeletal muscle tissue of tibialis anterior |
| http://purl.obolibrary.org/obo/UBERON_0016479 | capsule of liver |
| HP:0004799 | Jejunoileal diverticula |
| http://purl.obolibrary.org/obo/UBERON_0004498 | skeletal muscle tissue of quadriceps femoris |
| HP:0002139 | Arrhinencephaly |
| HP:0002323 | Anencephaly |
| http://purl.obolibrary.org/obo/UBERON_0004495 | skeletal muscle tissue of diaphragm |
| HP:0004795 | Hamartomatous stomach polyps |
| HP:0004797 | Multiple small bowel atresias |
| HP:0002136 | Broad-based gait |
| HP:0002135 | Basal ganglia calcification |
| http://purl.obolibrary.org/obo/UBERON_0016480 | interlobular stroma of liver |
| http://purl.obolibrary.org/obo/UBERON_0016478 | liver stroma |
| http://purl.obolibrary.org/obo/UBERON_0016481 | bronchial lymph node |
| HP:0002141 | Gait imbalance |
| HP:0002149 | Hyperuricemia |
| HP:0002144 | Tethered cord |
| HP:0031938 | Abnormal conus terminalis morphology |
| http://purl.obolibrary.org/obo/UBERON_0016490 | auditory system |
| http://purl.obolibrary.org/obo/UBERON_0007037 | mechanosensory system |
| HP:0002151 | Increased serum lactate |
| HP:0002153 | Hyperkalemia |
| HP:0002150 | Hypercalciuria |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0002156 | Homocystinuria |
| HP:0002155 | Hypertriglyceridemia |
| http://purl.obolibrary.org/obo/CHEBI_2571 | aliphatic alcohol |
| HP:0002162 | Low posterior hairline |
| HP:0002165 | Pterygium of nails |
| HP:0002161 | Hyperlysinemia |
| HP:0002160 | Hyperhomocystinemia |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002495 | Impaired vibratory sensation |
| HP:0002168 | Scanning speech |
| http://purl.obolibrary.org/obo/UBERON_0016430 | palmar branch of median nerve |
| http://purl.obolibrary.org/obo/UBERON_0004456 | entire sense organ system |
| http://purl.obolibrary.org/obo/UBERON_0016435 | chest wall |
| http://purl.obolibrary.org/obo/UBERON_0004455 | neurula embryo |
| http://purl.obolibrary.org/obo/UBERON_0000922 | embryo |
| http://purl.obolibrary.org/obo/UBERON_0004454 | tarsal region |
| http://purl.obolibrary.org/obo/UBERON_0004453 | metacarpus region |
| http://purl.obolibrary.org/obo/UBERON_0009877 | metapodium region |
| HP:0004757 | Paroxysmal atrial fibrillation |
| http://purl.obolibrary.org/obo/UBERON_0004452 | carpal region |
| HP:0004758 | Effort-induced polymorphic ventricular tachycardia |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0004752 | Congenital atrioventricular dissociation |
| HP:0004754 | Permanent atrial fibrillation |
| http://purl.obolibrary.org/obo/UBERON_0016440 | glabella region of bone |
| http://purl.obolibrary.org/obo/UBERON_0016442 | median palatine suture |
| HP:0002108 | Spontaneous pneumothorax |
| http://purl.obolibrary.org/obo/UBERON_0004469 | musculature of back |
| http://purl.obolibrary.org/obo/UBERON_0004468 | set of muscles of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0004467 | musculature of pharynx |
| HP:0004761 | Post-angioplasty coronary artery restenosis |
| HP:0002105 | Hemoptysis |
| http://purl.obolibrary.org/obo/UBERON_0004465 | musculature of neck |
| http://purl.obolibrary.org/obo/UBERON_0016447 | hair of trunk |
| http://purl.obolibrary.org/obo/UBERON_0004464 | musculature of thorax |
| HP:0004768 | Sparse anterior scalp hair |
| http://purl.obolibrary.org/obo/UBERON_0004463 | musculature of hindlimb stylopod |
| http://purl.obolibrary.org/obo/UBERON_0004462 | musculature of body wall |
| HP:0004762 | Hypoplasia of right ventricle |
| HP:0004763 | Paroxysmal supraventricular tachycardia |
| http://purl.obolibrary.org/obo/UBERON_0004461 | skeletal musculature of head |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0004764 | Myxomatous mitral valve degeneration |
| HP:0002102 | Pleuritis |
| http://purl.obolibrary.org/obo/UBERON_0016452 | upper secondary premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0016944 | upper premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0016453 | lower secondary premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0017270 | secondary premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0016943 | lower premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0007120 | premolar tooth |
| http://purl.obolibrary.org/obo/UBERON_0016454 | upper central secondary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0016455 | upper lateral secondary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0019253 | upper secondary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0004478 | musculature of larynx |
| HP:0002110 | Bronchiectasis |
| HP:0004771 | Premature graying of body hair |
| HP:0002216 | Premature graying of hair |
| http://purl.obolibrary.org/obo/UBERON_0004476 | musculature of shoulder |
| http://purl.obolibrary.org/obo/UBERON_0016458 | esophageal hiatus |
| http://purl.obolibrary.org/obo/UBERON_0004475 | musculature of hip |
| HP:0004779 | Brittle scalp hair |
| HP:0002299 | Brittle hair |
| http://purl.obolibrary.org/obo/UBERON_0016459 | posterior pole of lens |
| http://purl.obolibrary.org/obo/UBERON_0019210 | pole of lens |
| http://purl.obolibrary.org/obo/UBERON_0004473 | musculature of face |
| http://purl.obolibrary.org/obo/UBERON_0004471 | musculature of pectoral girdle |
| http://purl.obolibrary.org/obo/UBERON_0004470 | musculature of pelvic girdle |
| http://purl.obolibrary.org/obo/UBERON_0016462 | periorbital skin |
| http://purl.obolibrary.org/obo/UBERON_0016464 | dorsum of nose |
| http://purl.obolibrary.org/obo/UBERON_0016466 | antihelix |
| http://purl.obolibrary.org/obo/UBERON_0004489 | musculature of manus |
| http://purl.obolibrary.org/obo/UBERON_0016467 | antitragus |
| HP:0004780 | Elbow hypertrichosis |
| HP:0004783 | Duodenal polyposis |
| HP:0002127 | Abnormal upper motor neuron morphology |
| http://purl.obolibrary.org/obo/UBERON_0004488 | musculature of pes |
| HP:0004788 | Intestinal lymphedema |
| http://purl.obolibrary.org/obo/UBERON_0004487 | musculature of forelimb zeugopod |
| http://purl.obolibrary.org/obo/UBERON_0004474 | musculature of arm |
| HP:0004789 | Lactose intolerance |
| HP:0002024 | Malabsorption |
| http://purl.obolibrary.org/obo/UBERON_0004486 | musculature of perineum |
| http://purl.obolibrary.org/obo/GO_0043474 | pigment metabolic process involved in pigmentation |
| HP:0004784 | Juvenile gastrointestinal polyposis |
| HP:0004390 | Hamartomatous polyposis |
| HP:0004785 | Malrotation of colon |
| HP:0004786 | Jejunal diverticula |
| HP:0002256 | Diverticula of small intestine |
| http://purl.obolibrary.org/obo/UBERON_0004481 | musculature of upper limb |
| http://purl.obolibrary.org/obo/UBERON_0007269 | pectoral appendage musculature |
| http://purl.obolibrary.org/obo/UBERON_0014793 | musculature of pectoral complex |
| HP:0004787 | Fulminant hepatitis |
| HP:0004448 | Fulminant hepatic failure |
| HP:0006554 | Acute hepatic failure |
| http://purl.obolibrary.org/obo/UBERON_0004413 | proximal epiphysis of radius |
| http://purl.obolibrary.org/obo/UBERON_0004412 | proximal epiphysis of femur |
| HP:0100573 | Muscular cardiac diverticulum |
| HP:0100572 | Fibrous cardiac diverticulum |
| HP:0100571 | Cardiac diverticulum |
| HP:0006698 | Dilatation of the ventricular cavity |
| HP:0100575 | Neoplasm of the gallbladder |
| HP:0100577 | Urinary bladder inflammation |
| HP:0100576 | Amaurosis fugax |
| HP:0100578 | Lipoatrophy |
| HP:0009125 | Lipodystrophy |
| http://purl.obolibrary.org/obo/UBERON_0004411 | proximal epiphysis of humerus |
| http://purl.obolibrary.org/obo/UBERON_0004410 | distal epiphysis of fibula |
| http://purl.obolibrary.org/obo/UBERON_0004429 | proximal epiphysis of third metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004428 | proximal epiphysis of second metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004427 | proximal epiphysis of first metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004426 | proximal epiphysis of fifth metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0004425 | proximal epiphysis of fourth metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0004424 | proximal epiphysis of third metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0016400 | infrapatellar fat pad |
| http://purl.obolibrary.org/obo/UBERON_0004423 | proximal epiphysis of second metacarpal bone |
| HP:0100562 | Diplomyelia |
| HP:0100564 | Triplomyelia |
| HP:0100563 | Diastomatomyelia |
| HP:0100566 | Amyelia |
| HP:0100565 | Hydromyelia |
| http://purl.obolibrary.org/obo/UBERON_0004422 | proximal epiphysis of first metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0004416 | proximal epiphysis of metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0016404 | cervical vertebral arch joint |
| http://purl.obolibrary.org/obo/UBERON_0016405 | pulmonary capillary |
| http://purl.obolibrary.org/obo/PR_O09100 | endothelial transcription factor GATA-2 (mouse) |
| http://purl.obolibrary.org/obo/PR_000007858 | endothelial transcription factor GATA-2 |
| http://purl.obolibrary.org/obo/UBERON_0016408 | corona of glans penis |
| http://purl.obolibrary.org/obo/UBERON_0016409 | base of glans penis |
| http://purl.obolibrary.org/obo/CHEBI_84497 | (omega-1)-hydroxy fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_59835 | hydroxy fatty acid anion |
| http://purl.obolibrary.org/obo/UBERON_0004439 | proximal epiphysis of middle phalanx of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0004438 | proximal epiphysis of middle phalanx of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0004437 | proximal epiphysis of middle phalanx of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0004436 | proximal epiphysis of middle phalanx of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0016410 | male breast |
| http://purl.obolibrary.org/obo/UBERON_0000310 | breast |
| http://purl.obolibrary.org/obo/UBERON_0004435 | proximal epiphysis of distal phalanx of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0004434 | proximal epiphysis of distal phalanx of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0016412 | central part of body of bony vertebral centrum |
| HP:0100550 | Tendon rupture |
| HP:0100553 | Hemihypertrophy of lower limb |
| HP:0010496 | Hypertrophy of the lower limb |
| HP:0100554 | Hemihypertrophy of upper limb |
| HP:0010484 | Hypertrophy of the upper limb |
| HP:0100557 | Hemiatrophy of lower limb |
| HP:0006385 | Short lower limbs |
| HP:0100559 | Lower limb asymmetry |
| HP:0100558 | Hemiatrophy of upper limb |
| HP:0100560 | Upper limb asymmetry |
| HP:0100556 | Hemiatrophy |
| HP:0002983 | Micromelia |
| http://purl.obolibrary.org/obo/UBERON_0004433 | proximal epiphysis of distal phalanx of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0016413 | medullary cavity of long bone |
| http://purl.obolibrary.org/obo/UBERON_0002484 | bone marrow cavity |
| http://purl.obolibrary.org/obo/UBERON_0004432 | proximal epiphysis of distal phalanx of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004431 | proximal epiphysis of fifth metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004430 | proximal epiphysis of fourth metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004415 | proximal epiphysis of metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0016416 | anterior chest |
| http://purl.obolibrary.org/obo/CHEBI_35472 | anti-inflammatory drug |
| http://purl.obolibrary.org/obo/CHEBI_67079 | anti-inflammatory agent |
| http://purl.obolibrary.org/obo/UBERON_0016418 | nasion |
| http://purl.obolibrary.org/obo/UBERON_0016419 | bony part of vertebral arch |
| http://purl.obolibrary.org/obo/UBERON_0004449 | cerebral artery |
| http://purl.obolibrary.org/obo/UBERON_0016422 | compact bone of long bone |
| http://purl.obolibrary.org/obo/UBERON_0004445 | proximal epiphysis of proximal phalanx of manual digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0016423 | compact bone of diaphysis |
| HP:0100541 | Femoral hernia |
| HP:0100546 | Carotid artery stenosis |
| HP:0100548 | Exstrophy |
| http://purl.obolibrary.org/obo/CHEBI_35469 | antidepressant |
| http://purl.obolibrary.org/obo/CHEBI_35471 | psychotropic drug |
| http://purl.obolibrary.org/obo/UBERON_0004444 | proximal epiphysis of distal phalanx of manual digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0004417 | proximal epiphysis of phalanx of manual digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0004443 | proximal epiphysis of proximal phalanx of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0004421 | proximal epiphysis of phalanx of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0016425 | epiphyseal plate of radius |
| http://purl.obolibrary.org/obo/UBERON_0007390 | pectoral appendage cartilage tissue |
| http://purl.obolibrary.org/obo/UBERON_0007389 | paired limb/fin cartilage |
| http://purl.obolibrary.org/obo/UBERON_0002516 | epiphyseal plate |
| http://purl.obolibrary.org/obo/UBERON_0004442 | proximal epiphysis of proximal phalanx of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0004420 | proximal epiphysis of phalanx of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0016426 | proximal interphalangeal joint of little finger |
| http://purl.obolibrary.org/obo/UBERON_0009767 | proximal interphalangeal joint |
| http://purl.obolibrary.org/obo/UBERON_0007732 | interphalangeal joint of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0007722 | interphalangeal joint of manus |
| http://purl.obolibrary.org/obo/UBERON_0004441 | proximal epiphysis of proximal phalanx of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0004419 | proximal epiphysis of phalanx of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0004440 | proximal epiphysis of proximal phalanx of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004418 | proximal epiphysis of phalanx of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004414 | proximal epiphysis of phalanx of manus |
| http://purl.obolibrary.org/obo/CHEBI_35492 | cystine zwitterion |
| HP:0100531 | Wind-swept deformity of the knees |
| HP:0002857 | Genu valgum |
| HP:0002970 | Genu varum |
| HP:0100532 | Scleritis |
| HP:0100535 | Tibiofibular diastasis |
| HP:0100534 | Episcleritis |
| HP:0002173 | Hypoglycemic seizures |
| HP:0002176 | Spinal cord compression |
| HP:0002172 | Postural instability |
| HP:0002179 | Opisthotonus |
| HP:0002190 | Choroid plexus cyst |
| HP:0100520 | Oliguria |
| HP:0100522 | Thymoma |
| HP:0100521 | Neoplasm of the thymus |
| HP:0100524 | Limb duplication |
| HP:0100523 | Liver abscess |
| HP:0002185 | Neurofibrillary tangles |
| HP:0100314 | Cerebral inclusion bodies |
| HP:0100525 | Urachus fistula |
| HP:0100528 | Pleuropulmonary blastoma |
| HP:0002187 | Intellectual disability, profound |
| HP:0100527 | Neoplasia of the pleura |
| HP:0002181 | Cerebral edema |
| HP:0002183 | Phonophobia |
| http://purl.obolibrary.org/obo/CHEBI_35488 | central nervous system depressant |
| http://purl.obolibrary.org/obo/CHEBI_35470 | central nervous system drug |
| HP:0002189 | Excessive daytime sleepiness |
| HP:0002188 | Delayed CNS myelination |
| HP:0100510 | Low levels of vitamin C |
| HP:0100513 | Low levels of vitamin E |
| http://www.informatics.jax.org/marker/MGI:1921853 | Cd200r3 (mouse) |
| HP:0100512 | Low levels of vitamin D |
| HP:0100511 | Abnormality of vitamin D metabolism |
| HP:0100515 | Pollakisuria |
| HP:0002195 | Dysgenesis of the cerebellar vermis |
| HP:0100514 | Abnormality of vitamin E metabolism |
| HP:0100517 | Neoplasm of the urethra |
| HP:0100519 | Anuria |
| HP:0002191 | Progressive spasticity |
| HP:0100518 | Dysuria |
| HP:0002193 | Pseudobulbar behavioral symptoms |
| HP:0002199 | Hypocalcemic seizures |
| http://purl.obolibrary.org/obo/UBERON_0004408 | distal epiphysis of ulna |
| http://purl.obolibrary.org/obo/UBERON_0004407 | distal epiphysis of radius |
| http://purl.obolibrary.org/obo/UBERON_0004406 | distal epiphysis of femur |
| http://purl.obolibrary.org/obo/UBERON_0004405 | distal epiphysis of tibia |
| http://purl.obolibrary.org/obo/UBERON_0004404 | distal epiphysis of humerus |
| http://purl.obolibrary.org/obo/UBERON_0004403 | periosteum of epiphysis |
| http://purl.obolibrary.org/obo/UBERON_0016896 | periosteum of long bone |
| http://purl.obolibrary.org/obo/UBERON_0004402 | bone tissue of proximal epiphysis |
| http://purl.obolibrary.org/obo/UBERON_0004401 | bone tissue of distal epiphysis |
| HP:0100502 | Vitamin B12 deficiency |
| http://purl.obolibrary.org/obo/UBERON_0004409 | distal epiphysis of phalanx of manus |
| HP:0100501 | Recurrent bronchiolitis |
| HP:0002837 | Recurrent bronchitis |
| HP:0012387 | Bronchitis |
| HP:0100504 | Low levels of vitamin B2 |
| HP:0100503 | Low levels of vitamin B1 |
| HP:0100506 | Low levels of vitamin B8 |
| HP:0100505 | Low levels of vitamin B5 |
| HP:0100507 | Reduced blood folate concentration |
| HP:0100509 | Abnormality of vitamin C metabolism |
| http://purl.obolibrary.org/obo/UBERON_0004400 | bone tissue of epiphysis |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=12805 | XDH (human) |
| http://purl.obolibrary.org/obo/GO_0006487 | protein N-linked glycosylation |
| http://purl.obolibrary.org/obo/NCBITaxon_9606 | Homo sapiens |
| http://purl.obolibrary.org/obo/PR_000023661 | orotidine 5'-phosphate decarboxylase |
| http://purl.obolibrary.org/obo/GO_0031424 | keratinization |
| http://purl.obolibrary.org/obo/CHEBI_35418 | N-acetylneuraminate |
| http://purl.obolibrary.org/obo/CHEBI_21619 | N-acetylneuraminates |
| http://purl.obolibrary.org/obo/CHEBI_21663 | N-acylneuraminates |
| http://purl.obolibrary.org/obo/CHEBI_25506 | neuraminates |
| HP:0100592 | Peritoneal abscess |
| HP:0100595 | Camptocormia |
| HP:0100594 | Esophageal web |
| HP:0100596 | Absent nares |
| HP:0100599 | Bifid penis |
| HP:0100598 | Pulmonary edema |
| HP:0100580 | Barrett esophagus |
| HP:0100582 | Nasal polyposis |
| HP:0000433 | Abnormality of the nasal mucosa |
| HP:0100581 | Dilatation of renal calices |
| HP:0100583 | Corneal perforation |
| HP:0100586 | Sterile pyuria |
| HP:0100588 | Paraphimosis |
| HP:0004719 | Hyperechogenic kidneys |
| http://purl.obolibrary.org/obo/GO_0043473 | pigmentation |
| HP:0004717 | Axial malrotation of the kidney |
| http://purl.obolibrary.org/obo/GO_0043470 | regulation of carbohydrate catabolic process |
| HP:0004712 | Renal malrotation |
| HP:0004713 | Reversible renal failure |
| HP:0004727 | Impaired renal concentrating ability |
| HP:0004729 | Acute tubulointerstitial nephritis |
| HP:0004722 | Thickening of the glomerular basement membrane |
| http://purl.obolibrary.org/obo/GO_0043455 | regulation of secondary metabolic process |
| HP:0004724 | Calcium nephrolithiasis |
| HP:0004737 | Global glomerulosclerosis |
| HP:0000096 | Glomerulosclerosis |
| HP:0004734 | Renal cortical microcysts |
| HP:0000803 | Renal cortical cysts |
| HP:0004736 | Crossed fused renal ectopia |
| HP:0000086 | Ectopic kidney |
| HP:0004732 | Impaired renal uric acid clearance |
| HP:0004749 | Atrial flutter |
| http://purl.obolibrary.org/obo/GO_0006414 | translational elongation |
| HP:0004746 | Glomerular subendothelial electron-dense deposits |
| HP:0004742 | Abnormal renal collecting system morphology |
| HP:0004743 | Chronic tubulointerstitial nephritis |
| http://purl.obolibrary.org/obo/UBERON_0016399 | lymph node of upper limb |
| http://purl.obolibrary.org/obo/PR_P56528 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (mouse) |
| http://www.informatics.jax.org/marker/MGI:2139667 | Dpyd (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_2580 | unsaturated fatty acid anion |
| HP:0004704 | Short fifth metatarsal |
| http://purl.obolibrary.org/obo/GO_0006448 | regulation of translational elongation |
| http://purl.obolibrary.org/obo/CHEBI_41609 | carbonate |
| http://purl.obolibrary.org/obo/CHEBI_35604 | carbon oxoanion |
| http://purl.obolibrary.org/obo/UBERON_0004374 | vitelline vasculature |
| http://purl.obolibrary.org/obo/GO_0090139 | mitochondrial DNA packaging |
| HP:0003587 | Insidious onset |
| http://purl.obolibrary.org/obo/UBERON_0004370 | anterior limiting lamina of cornea |
| HP:0003593 | Infantile onset |
| http://purl.obolibrary.org/obo/UBERON_0004382 | epiphysis of humerus |
| http://purl.obolibrary.org/obo/UBERON_0004384 | epiphysis of femur |
| http://purl.obolibrary.org/obo/UBERON_0004385 | epiphysis of radius |
| HP:0003596 | Middle age onset |
| HP:0003584 | Late onset |
| http://purl.obolibrary.org/obo/CHEBI_53604 | N-acetyl-alpha-D-galactosaminyl-L-serine residue |
| http://purl.obolibrary.org/obo/UBERON_0004393 | epiphysis of third metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0004394 | epiphysis of fourth metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0004395 | epiphysis of first metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004396 | epiphysis of second metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004397 | epiphysis of third metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004398 | epiphysis of fourth metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004399 | epiphysis of fifth metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0004389 | epiphysis of metatarsal bone |
| http://purl.obolibrary.org/obo/CHEBI_16651 | (S)-lactate |
| http://purl.obolibrary.org/obo/UBERON_0004391 | epiphysis of first metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0004392 | epiphysis of second metacarpal bone |
| http://purl.obolibrary.org/obo/PATO_0000701 | smooth |
| http://purl.obolibrary.org/obo/PATO_0000700 | rough |
| http://purl.obolibrary.org/obo/CHEBI_28659 | phosphorus atom |
| http://purl.obolibrary.org/obo/CHEBI_33300 | pnictogen |
| http://purl.obolibrary.org/obo/GO_0006801 | superoxide metabolic process |
| http://purl.obolibrary.org/obo/GO_0072593 | reactive oxygen species metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_53608 | O-(N-acetyl-alpha-D-galactosaminyl)-L-serine |
| http://purl.obolibrary.org/obo/CHEBI_84135 | L-serine derivative |
| http://purl.obolibrary.org/obo/UBERON_0004335 | proximal phalanx of pedal digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0004336 | proximal phalanx of pedal digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0004337 | distal phalanx of manual digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0004338 | proximal phalanx of manual digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0004339 | vault of skull |
| http://purl.obolibrary.org/obo/CHEBI_28689 | dehydroepiandrosterone |
| http://purl.obolibrary.org/obo/CHEBI_50402 | androstanoid |
| http://purl.obolibrary.org/obo/GO_0006836 | neurotransmitter transport |
| http://purl.obolibrary.org/obo/UBERON_0004330 | proximal phalanx of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0014504 | proximal phalanx of digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0004331 | proximal phalanx of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0014505 | proximal phalanx of digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0004332 | proximal phalanx of pedal digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0014501 | proximal phalanx of digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0004333 | proximal phalanx of pedal digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004334 | proximal phalanx of pedal digit 3 |
| HP:0003546 | Exercise intolerance |
| HP:0003548 | Subsarcolemmal accumulations of abnormally shaped mitochondria |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0003542 | Increased serum pyruvate |
| HP:0004366 | Abnormality of glycolysis |
| http://purl.obolibrary.org/obo/UBERON_0004347 | limb bud |
| http://purl.obolibrary.org/obo/UBERON_0004348 | optic eminence |
| http://purl.obolibrary.org/obo/UBERON_0004340 | allantois |
| HP:0003551 | Difficulty climbing stairs |
| http://purl.obolibrary.org/obo/UBERON_0004341 | primitive streak |
| HP:0003550 | Predominantly lower limb lymphedema |
| http://purl.obolibrary.org/obo/UBERON_0004345 | trophectoderm |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003559 | Muscle hyperirritability |
| HP:0003558 | Viral infection-induced rhabdomyolysis |
| HP:0003555 | Muscle fiber splitting |
| HP:0003554 | Type 2 muscle fiber atrophy |
| http://purl.obolibrary.org/obo/UBERON_0004357 | paired limb/fin bud |
| HP:0003562 | Abnormal metaphyseal vascular invasion |
| HP:0003561 | Birth length less than 3rd percentile |
| http://purl.obolibrary.org/obo/UBERON_0004353 | female inguinal canal |
| http://purl.obolibrary.org/obo/UBERON_0004354 | male inguinal canal |
| http://purl.obolibrary.org/obo/GO_0006859 | extracellular carbohydrate transport |
| http://purl.obolibrary.org/obo/GO_0006858 | extracellular transport |
| HP:0003568 | Decreased glucosephosphate isomerase level |
| HP:0003564 | Folate-dependent fragile site at Xq28 |
| HP:0003566 | Increased serum prostaglandin E2 |
| HP:0003565 | Elevated erythrocyte sedimentation rate |
| http://purl.obolibrary.org/obo/UBERON_0004368 | Reichert's cartilage |
| HP:0003571 | Propionicacidemia |
| HP:0003570 | Molybdenum cofactor deficiency |
| http://purl.obolibrary.org/obo/UBERON_0004362 | pharyngeal arch 1 |
| HP:0003573 | Increased total bilirubin |
| HP:0003572 | Low plasma citrulline |
| HP:0011965 | Abnormal circulating citrulline concentration |
| http://purl.obolibrary.org/obo/CHEBI_28694 | copper atom |
| http://purl.obolibrary.org/obo/CHEBI_88184 | metal allergen |
| http://purl.obolibrary.org/obo/CHEBI_33366 | copper group element atom |
| http://purl.obolibrary.org/obo/UBERON_0004367 | Descemet's membrane |
| HP:0003575 | Increased intracellular sodium |
| HP:0003574 | Positive regitine blocking test |
| HP:0002640 | Hypertension associated with pheochromocytoma |
| HP:0000822 | Hypertension |
| HP:0003577 | Congenital onset |
| http://purl.obolibrary.org/obo/UBERON_0006957 | submandibular gland primordium epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006956 | buccal mucosa |
| http://purl.obolibrary.org/obo/UBERON_0006953 | ejaculatory duct epithelium |
| http://purl.obolibrary.org/obo/CL_1000296 | epithelial cell of urethra |
| http://purl.obolibrary.org/obo/CL_1001320 | urethra cell |
| http://purl.obolibrary.org/obo/CL_1000298 | mesothelial cell of dura mater |
| http://purl.obolibrary.org/obo/UBERON_0006966 | coronary capillary |
| http://purl.obolibrary.org/obo/UBERON_0006965 | vascular cord |
| http://purl.obolibrary.org/obo/UBERON_0006960 | ovary stroma |
| http://purl.obolibrary.org/obo/UBERON_0004313 | distal phalanx of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0004314 | distal phalanx of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0004315 | distal phalanx of pedal digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0014483 | distal phalanx of digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0004316 | distal phalanx of pedal digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004317 | distal phalanx of pedal digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0004318 | distal phalanx of pedal digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0014486 | distal phalanx of digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0004319 | distal phalanx of pedal digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0014487 | distal phalanx of digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0004311 | distal phalanx of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0014484 | distal phalanx of digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004312 | distal phalanx of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0014485 | distal phalanx of digit 3 |
| http://purl.obolibrary.org/obo/CL_1000272 | lung secretory cell |
| http://purl.obolibrary.org/obo/CL_1000271 | lung ciliated cell |
| http://purl.obolibrary.org/obo/UBERON_0004324 | middle phalanx of pedal digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004325 | middle phalanx of pedal digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0004326 | middle phalanx of pedal digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0004327 | middle phalanx of pedal digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0004328 | proximal phalanx of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0014502 | proximal phalanx of digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004329 | proximal phalanx of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0002234 | proximal phalanx of manus |
| http://purl.obolibrary.org/obo/UBERON_0014503 | proximal phalanx of digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0004320 | middle phalanx of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0014488 | middle phalanx of digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0004321 | middle phalanx of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0014489 | middle phalanx of digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0004322 | middle phalanx of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0014490 | middle phalanx of digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0004323 | middle phalanx of manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0014491 | middle phalanx of digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0006916 | non-keratinized epithelium of tongue |
| http://purl.obolibrary.org/obo/UBERON_0006913 | lip epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006919 | tongue squamous epithelium |
| http://purl.obolibrary.org/obo/PR_Q9QUM4 | signaling lymphocytic activation molecule (mouse) |
| http://purl.obolibrary.org/obo/PR_000001833 | SLAM family member 1 |
| http://purl.obolibrary.org/obo/PR_Q9QUM0 | integrin alpha-IIb (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0006925 | digestive system gland |
| http://purl.obolibrary.org/obo/UBERON_0006924 | stomach glandular epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006923 | vagina squamous epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006922 | cervix squamous epithelium |
| http://purl.obolibrary.org/obo/UBERON_0004801 | cervix epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006955 | uterine epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006921 | stomach squamous epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006920 | esophagus squamous epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006929 | glandular columnar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006938 | pinna surface epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006936 | thymus subcapsular epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006932 | vestibular epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006934 | sensory epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006931 | stomach glandular region mucosa |
| http://purl.obolibrary.org/obo/GO_0090195 | chemokine secretion |
| http://purl.obolibrary.org/obo/GO_0090198 | negative regulation of chemokine secretion |
| http://purl.obolibrary.org/obo/GO_0050710 | negative regulation of cytokine secretion |
| http://purl.obolibrary.org/obo/GO_0090197 | positive regulation of chemokine secretion |
| http://purl.obolibrary.org/obo/GO_0050715 | positive regulation of cytokine secretion |
| http://purl.obolibrary.org/obo/GO_0090196 | regulation of chemokine secretion |
| http://purl.obolibrary.org/obo/GO_0050707 | regulation of cytokine secretion |
| http://purl.obolibrary.org/obo/UBERON_0006948 | efferent duct epithelium |
| http://purl.obolibrary.org/obo/CHEBI_28616 | carbamic acid |
| http://purl.obolibrary.org/obo/UBERON_0006947 | male genital duct |
| http://purl.obolibrary.org/obo/UBERON_0006946 | efferent duct |
| http://purl.obolibrary.org/obo/PR_P01732-1 | T-cell surface glycoprotein CD8 alpha chain isoform 1 (human) |
| http://purl.obolibrary.org/obo/PR_000025403 | T-cell surface glycoprotein CD8 alpha chain isoform 1 |
| http://purl.obolibrary.org/obo/PR_P01732 | T-cell surface glycoprotein CD8 alpha chain (human) |
| http://purl.obolibrary.org/obo/UBERON_0006905 | mandibular process mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0006909 | lumen of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0006906 | ala of nose |
| http://purl.obolibrary.org/obo/GO_0100001 | regulation of skeletal muscle contraction by action potential |
| http://purl.obolibrary.org/obo/GO_0001508 | action potential |
| http://purl.obolibrary.org/obo/PATO_0000651 | unfused from |
| http://purl.obolibrary.org/obo/GO_0006757 | ATP generation from ADP |
| http://purl.obolibrary.org/obo/GO_0006165 | nucleoside diphosphate phosphorylation |
| HP:0003502 | Mild short stature |
| http://purl.obolibrary.org/obo/PATO_0000648 | obstructed |
| HP:0003517 | Birth length greater than 97th percentile |
| http://purl.obolibrary.org/obo/PATO_0000646 | malformed |
| http://purl.obolibrary.org/obo/PATO_0001617 | deformed |
| http://purl.obolibrary.org/obo/PATO_0000647 | necrotic |
| http://purl.obolibrary.org/obo/PATO_0000644 | hyperplastic |
| http://purl.obolibrary.org/obo/CHEBI_142767 | alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-Glc-yl group |
| http://purl.obolibrary.org/obo/PATO_0000645 | hypoplastic |
| http://purl.obolibrary.org/obo/PATO_0000642 | fused with |
| http://purl.obolibrary.org/obo/PATO_0000643 | herniated |
| http://purl.obolibrary.org/obo/PATO_0000640 | dysplastic |
| HP:0003513 | Reduced ratio of renal calcium clearance to creatinine clearance |
| HP:0003514 | Deficiency or absence of cytochrome b(-245) |
| HP:0003510 | Severe short stature |
| HP:0003508 | Proportionate short stature |
| HP:0003528 | Elevated calcitonin |
| HP:0003527 | Hyperprostaglandinuria |
| HP:0003529 | Parathormone-independent increased renal tubular calcium reabsorption |
| http://purl.obolibrary.org/obo/GO_0006783 | heme biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0006779 | porphyrin-containing compound biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0033014 | tetrapyrrole biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0018130 | heterocycle biosynthetic process |
| HP:0003524 | Decreased methionine synthase activity |
| HP:0003526 | Orotic acid crystalluria |
| HP:0003538 | Increased serum iduronate sulfatase level |
| http://purl.obolibrary.org/obo/PATO_0000665 | high brightness |
| http://purl.obolibrary.org/obo/GO_0006776 | vitamin A metabolic process |
| http://purl.obolibrary.org/obo/GO_0006775 | fat-soluble vitamin metabolic process |
| http://purl.obolibrary.org/obo/GO_0001523 | retinoid metabolic process |
| http://purl.obolibrary.org/obo/GO_0016101 | diterpenoid metabolic process |
| HP:0003534 | Reduced xanthine dehydrogenase level |
| HP:0003537 | Hypouricemia |
| HP:0004369 | Decreased purine level |
| HP:0003536 | Decreased fumarate hydratase activity |
| HP:0003530 | Glutaric acidemia |
| HP:0003533 | Reduced acetaldehyde dehydrogenase level |
| http://purl.obolibrary.org/obo/PR_P20489 | high affinity immunoglobulin epsilon receptor subunit alpha (mouse) |
| HP:0003532 | Ornithinuria |
| http://purl.obolibrary.org/obo/PATO_0000695 | synchronous |
| http://purl.obolibrary.org/obo/PATO_0000692 | heterochronic |
| http://purl.obolibrary.org/obo/UBERON_0004294 | glomerular capillary endothelium |
| http://purl.obolibrary.org/obo/UBERON_0004295 | sympathetic nerve trunk |
| http://purl.obolibrary.org/obo/UBERON_0004296 | respiratory system lymphatic vessel smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004297 | respiratory system blood vessel smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004290 | dermomyotome |
| http://purl.obolibrary.org/obo/UBERON_0016888 | transitional anatomical structure |
| http://purl.obolibrary.org/obo/UBERON_0004291 | heart rudiment |
| http://purl.obolibrary.org/obo/GO_0016125 | sterol metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0004292 | cardiac skeleton |
| http://purl.obolibrary.org/obo/UBERON_0004293 | parasympathetic nerve |
| http://purl.obolibrary.org/obo/PATO_0000688 | asynchronous |
| http://purl.obolibrary.org/obo/PATO_0000689 | continuous |
| http://purl.obolibrary.org/obo/PATO_0000690 | discontinuous |
| http://purl.obolibrary.org/obo/PR_P19437 | B-lymphocyte antigen CD20 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001289 | membrane-spanning 4-domains subfamily A member 1 |
| http://purl.obolibrary.org/obo/GO_0016137 | glycoside metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0004258 | back blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0004259 | lower arm blood vessel |
| HP:0001042 | High axial triradius |
| http://purl.obolibrary.org/obo/UBERON_0004250 | upper arm bone |
| HP:0001043 | Prominent scalp veins |
| HP:0001040 | Multiple pterygia |
| http://purl.obolibrary.org/obo/UBERON_0004252 | hindlimb stylopod muscle |
| HP:0001041 | Facial erythema |
| http://purl.obolibrary.org/obo/UBERON_0004257 | upper leg blood vessel |
| HP:0001049 | Absent dorsal skin creases over affected joints |
| HP:0001046 | Intermittent jaundice |
| HP:0000952 | Jaundice |
| http://purl.obolibrary.org/obo/UBERON_0004262 | upper leg skin |
| HP:0001054 | Numerous nevi |
| http://purl.obolibrary.org/obo/UBERON_0004263 | upper arm skin |
| http://purl.obolibrary.org/obo/UBERON_0004264 | lower leg skin |
| http://purl.obolibrary.org/obo/UBERON_0004265 | outflow tract myocardium |
| http://purl.obolibrary.org/obo/UBERON_0004266 | upper leg connective tissue |
| HP:0001050 | Plethora |
| http://purl.obolibrary.org/obo/UBERON_0004267 | back connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0004268 | lower arm connective tissue |
| HP:0001058 | Poor wound healing |
| HP:0001055 | Erysipelas |
| http://purl.obolibrary.org/obo/UBERON_0004260 | upper arm blood vessel |
| HP:0001056 | Milia |
| http://purl.obolibrary.org/obo/CL_1000303 | fibroblast of areolar connective tissue |
| http://purl.obolibrary.org/obo/CL_1000306 | fibroblast of tunica adventitia of artery |
| http://purl.obolibrary.org/obo/CL_1000307 | fibroblast of dense regular elastic tissue |
| http://purl.obolibrary.org/obo/PR_P32248 | C-C chemokine receptor type 7 (human) |
| http://purl.obolibrary.org/obo/PR_000001203 | C-C chemokine receptor type 7 |
| http://purl.obolibrary.org/obo/PR_P32246 | C-C chemokine receptor type 1 (human) |
| http://purl.obolibrary.org/obo/UBERON_0004273 | cartilaginous joint suture |
| HP:0001065 | Skin striae |
| HP:0100679 | Lack of skin elasticity |
| http://purl.obolibrary.org/obo/UBERON_0004274 | lateral ventricle choroid plexus epithelium |
| HP:0001062 | Atypical nevus |
| http://purl.obolibrary.org/obo/UBERON_0004275 | third ventricle choroid plexus epithelium |
| HP:0001063 | Acrocyanosis |
| http://purl.obolibrary.org/obo/UBERON_0004276 | fourth ventricle choroid plexus epithelium |
| HP:0001060 | Axillary pterygium |
| HP:0001069 | Episodic hyperhidrosis |
| http://purl.obolibrary.org/obo/UBERON_0004271 | outflow tract pericardium |
| http://purl.obolibrary.org/obo/UBERON_0002407 | pericardium |
| HP:0001076 | Glabellar hemangioma |
| HP:0001073 | Cigarette-paper scars |
| HP:0001075 | Atrophic scars |
| HP:0000987 | Atypical scarring of skin |
| HP:0001074 | Atypical nevi in non-sun exposed areas |
| HP:0001071 | Angiokeratoma corporis diffusum |
| http://purl.obolibrary.org/obo/UBERON_0004288 | skeleton |
| http://purl.obolibrary.org/obo/CHEBI_16541 | protein polypeptide chain |
| http://purl.obolibrary.org/obo/GO_0090027 | negative regulation of monocyte chemotaxis |
| http://purl.obolibrary.org/obo/GO_0090026 | positive regulation of monocyte chemotaxis |
| http://purl.obolibrary.org/obo/GO_0090025 | regulation of monocyte chemotaxis |
| http://purl.obolibrary.org/obo/UBERON_0006877 | vasculature of liver |
| HP:0001008 | Accumulation of melanosomes in melanocytes |
| http://purl.obolibrary.org/obo/UBERON_0004214 | upper leg nerve |
| http://purl.obolibrary.org/obo/UBERON_0004215 | back nerve |
| http://purl.obolibrary.org/obo/UBERON_0004216 | lower arm nerve |
| http://purl.obolibrary.org/obo/UBERON_0004217 | upper arm nerve |
| http://purl.obolibrary.org/obo/UBERON_0004218 | lower leg nerve |
| http://purl.obolibrary.org/obo/UBERON_0004219 | urethra smooth muscle layer |
| http://purl.obolibrary.org/obo/GO_0006721 | terpenoid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006720 | isoprenoid metabolic process |
| HP:0025035 | Abnormal proerythroblast morphology |
| HP:0025037 | Hypothalamic gliosis |
| HP:0002171 | Gliosis |
| HP:0025038 | Intratesticular abscess |
| HP:0025039 | Basal ganglia edema |
| http://purl.obolibrary.org/obo/UBERON_0006875 | embryonic handplate |
| HP:0001004 | Lymphedema |
| http://purl.obolibrary.org/obo/UBERON_0006872 | handplate apical ectodermal ridge |
| HP:0025030 | Enteric neuronal degeneration |
| http://purl.obolibrary.org/obo/UBERON_0006871 | embryonic footplate |
| http://purl.obolibrary.org/obo/UBERON_0010130 | embryonic autopod plate |
| HP:0001003 | Multiple lentigines |
| HP:0003665 | Amyotrophy of the musculature of the pelvis |
| HP:0008988 | Pelvic girdle muscle atrophy |
| HP:0025034 | Abnormal morphology of erythroid progenitor cell |
| http://purl.obolibrary.org/obo/UBERON_0004227 | kidney pelvis smooth muscle |
| HP:0025024 | Megarectum |
| HP:0025026 | H-type rectovestibular fistula |
| HP:0025025 | Rectovestibular fistula |
| HP:0025027 | Osteoma cutis |
| http://purl.obolibrary.org/obo/UBERON_0004222 | stomach smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004223 | vagina smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004224 | muscular coat of vas deferens |
| HP:0001017 | Anemic pallor |
| HP:0000980 | Pallor |
| HP:0003678 | Rapidly progressive |
| HP:0003677 | Slow progression |
| HP:0025020 | Elevated prostate-specific antigen level |
| HP:0001013 | Eruptive xanthomas |
| HP:0001014 | Angiokeratoma |
| HP:0025022 | Decreased erythrocyte sedimentation rate |
| HP:0025021 | Abnormal erythrocyte sedimentation rate |
| HP:0003676 | Progressive |
| HP:0025023 | Rectal atresia |
| http://purl.obolibrary.org/obo/CL_0001008 | Kit and Sca1-positive hematopoietic stem cell |
| http://purl.obolibrary.org/obo/UBERON_0004236 | arteriole smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004238 | spleen smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004239 | small intestine smooth muscle |
| HP:0025013 | Decerebrate rigidity |
| HP:0025014 | Subcutaneous spheroids |
| HP:0003680 | Nonprogressive |
| http://purl.obolibrary.org/obo/UBERON_0004230 | urinary bladder neck smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004228 | urinary bladder smooth muscle |
| HP:0003683 | Large beaked nose |
| HP:0003682 | Variable progression rate |
| HP:0003679 | Pace of progression |
| HP:0025016 | Abnormal capillary morphology |
| http://purl.obolibrary.org/obo/UBERON_0004232 | lymphatic vessel smooth muscle |
| HP:0025017 | Capillary fragility |
| HP:0025019 | Arterial rupture |
| http://purl.obolibrary.org/obo/UBERON_0004235 | mammary gland smooth muscle |
| HP:0003689 | Multiple mitochondrial DNA deletions |
| HP:0009141 | Depletion of mitochondrial DNA in muscle tissue |
| HP:0003688 | Cytochrome C oxidase-negative muscle fibers |
| HP:0001029 | Poikiloderma |
| HP:0001026 | Penetrating foot ulcers |
| HP:0001027 | Soft, doughy skin |
| HP:0000977 | Soft skin |
| HP:0001024 | Skin dimple over apex of long bone angulation |
| HP:0025010 | Foveal atrophy |
| HP:0001022 | Albinism |
| HP:0025011 | Pyriform aperture stenosis |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0025012 | Status cribrosum |
| http://purl.obolibrary.org/obo/UBERON_0004240 | gall bladder smooth muscle |
| HP:0003691 | Scapular winging |
| HP:0025004 | Hallux rigidus |
| HP:0003694 | Late-onset proximal muscle weakness |
| HP:0025005 | Thickening of glomerular capillary wall |
| http://purl.obolibrary.org/obo/UBERON_0004242 | bronchus smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004243 | prostate gland smooth muscle |
| HP:0025006 | Abnormal glomerular capillary morphology |
| HP:0025007 | Ectopic fovea |
| http://purl.obolibrary.org/obo/UBERON_0004245 | oviduct smooth muscle |
| HP:0025008 | Tracheal tug on inspiration |
| http://purl.obolibrary.org/obo/UBERON_0004246 | outflow tract smooth muscle |
| HP:0025009 | Forward slanting upper incisors |
| HP:0001039 | Atheroeruptive xanthoma |
| HP:0001038 | Warfarin-induced skin necrosis |
| HP:0003696 | Absent epiphysis of the distal phalanx of the 5th finger |
| HP:0009198 | Abnormality of the epiphysis of the distal phalanx of the 5th finger |
| HP:0009382 | Absent epiphyses of the 5th finger |
| HP:0009152 | Abnormality of the epiphyses of the 5th finger |
| HP:0003698 | Difficulty standing |
| HP:0001033 | Facial flushing after alcohol intake |
| HP:0031284 | Flushing |
| HP:0003697 | Scapuloperoneal amyotrophy |
| http://purl.obolibrary.org/obo/UBERON_0006839 | dorsal ramus of spinal nerve |
| http://purl.obolibrary.org/obo/UBERON_0006838 | ventral ramus of spinal nerve |
| http://purl.obolibrary.org/obo/UBERON_0006833 | lumen of trachea |
| HP:0025080 | Orthokeratotic hyperkeratosis |
| HP:0025081 | Darier's sign |
| HP:0025079 | Pancreatic abscess |
| HP:0025072 | Prominent U wave |
| HP:0025073 | Exercise-induced U wave inversion |
| HP:0025071 | U wave inversion |
| HP:0025075 | Increased QRS voltage |
| HP:0025077 | Decreased QRS voltage |
| HP:0025078 | Electrical alternans |
| HP:0025076 | Abnormal QRS voltage |
| HP:0025074 | Abnormal QRS complex |
| http://purl.obolibrary.org/obo/UBERON_0006849 | scapula |
| http://purl.obolibrary.org/obo/UBERON_0006847 | cerebellar commissure |
| http://purl.obolibrary.org/obo/UBERON_0006844 | cusp of tooth |
| HP:0025070 | Abnormal U wave |
| HP:0025069 | Concomitant strabismus |
| HP:0025060 | Multifocal splenic abscess |
| HP:0025061 | Unifocal splenic abscess |
| HP:0025062 | Geophagia |
| HP:0025063 | Scaphoid abdomen |
| HP:0025064 | Thalamic hemorrhage |
| HP:0025066 | Decreased mean corpuscular volume |
| http://purl.obolibrary.org/obo/UBERON_0006855 | muscular coat of ureter |
| HP:0025058 | Hypothalamic atrophy |
| HP:0025059 | Splenic abscess |
| HP:0025050 | Elevated brain creatine level by MRS |
| HP:0025051 | Reduced brain creatine level by MRS |
| HP:0025053 | Elevated brain N-acetyl aspartate level by MRS |
| HP:0025052 | Abnormal brain N-acetyl aspartate level by MRS |
| http://purl.obolibrary.org/obo/CL_1000398 | endothelial cell of hepatic sinusoid |
| http://purl.obolibrary.org/obo/CL_0002262 | endothelial cell of sinusoid |
| http://purl.obolibrary.org/obo/UBERON_0006868 | seminal fluid secreting gland |
| http://purl.obolibrary.org/obo/UBERON_0005399 | male reproductive gland |
| http://purl.obolibrary.org/obo/UBERON_0006867 | anal part of perineum |
| http://purl.obolibrary.org/obo/UBERON_0006866 | terminal part of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0004203 | cortical collecting duct |
| http://purl.obolibrary.org/obo/UBERON_0004205 | inner medullary collecting duct |
| http://purl.obolibrary.org/obo/UBERON_0004208 | nephrogenic mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0004209 | renal vesicle |
| HP:0025046 | Reduced brain lactate level by MRS |
| HP:0025048 | Reduced brain choline level by MRS |
| HP:0025047 | Abnormal brain choline level by MRS |
| HP:0025049 | Abnormal brain creatine level by MRS |
| http://purl.obolibrary.org/obo/UBERON_0004200 | kidney pyramid |
| http://purl.obolibrary.org/obo/UBERON_0006864 | distal metaphysis of femur |
| http://purl.obolibrary.org/obo/UBERON_0004377 | distal metaphysis |
| http://purl.obolibrary.org/obo/UBERON_0006863 | proximal metaphysis of femur |
| http://purl.obolibrary.org/obo/UBERON_0004378 | proximal metaphysis |
| http://purl.obolibrary.org/obo/UBERON_0006865 | metaphysis of femur |
| http://purl.obolibrary.org/obo/UBERON_0006862 | diaphysis of femur |
| HP:0025040 | Thalamic edema |
| http://purl.obolibrary.org/obo/UBERON_0006861 | diaphysis proper |
| HP:0025041 | Thalamic calcification |
| HP:0025043 | Enlarged mesenteric lymph node |
| HP:0025042 | Abnormality of mesenteric lymph nodes |
| HP:0025044 | Lung abscess |
| HP:0025045 | Abnormal brain lactate level by MRS |
| HP:0001084 | Corneal arcus |
| HP:0001085 | Papilledema |
| HP:0001082 | Cholecystitis |
| HP:0001081 | Cholelithiasis |
| HP:0001088 | Brushfield spots |
| HP:0001089 | Iris atrophy |
| http://purl.obolibrary.org/obo/UBERON_0006801 | proximal head of humerus |
| HP:0001097 | Keratoconjunctivitis sicca |
| HP:0001095 | Hypertensive retinopathy |
| HP:0001096 | Keratoconjunctivitis |
| HP:0001093 | Optic nerve dysplasia |
| HP:0001094 | Iridocyclitis |
| HP:0012122 | Anterior uveitis |
| HP:0001092 | Absent lacrimal punctum |
| http://purl.obolibrary.org/obo/CHEBI_16523 | D-serine |
| http://purl.obolibrary.org/obo/CHEBI_17822 | serine |
| HP:0001099 | Fundus atrophy |
| http://purl.obolibrary.org/obo/CHEBI_16526 | carbon dioxide |
| http://purl.obolibrary.org/obo/CHEBI_23014 | carbon oxide |
| http://purl.obolibrary.org/obo/CHEBI_25701 | organic oxide |
| http://purl.obolibrary.org/obo/UBERON_0006815 | areolar connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0006813 | nasal skeleton |
| http://purl.obolibrary.org/obo/UBERON_0006812 | mental foramen |
| http://purl.obolibrary.org/obo/UBERON_0006810 | olecranon |
| HP:0025093 | Peripapillary exudate |
| HP:0025094 | Disciform macular scar |
| HP:0200056 | Macular scar |
| HP:0025096 | Paroxysmal sneezing |
| HP:0025095 | Sneeze |
| HP:0025097 | Eyelid myoclonus |
| HP:0025098 | Dysgenesis of the hypothalamus |
| HP:0012286 | Abnormal hypothalamus morphology |
| HP:0025099 | Dysgenesis of the thalamus |
| http://purl.obolibrary.org/obo/UBERON_0006822 | proximal epiphysis of ulna |
| http://purl.obolibrary.org/obo/UBERON_0004386 | epiphysis of ulna |
| HP:0025083 | Elevated dermal desmosine content |
| http://purl.obolibrary.org/obo/GO_0090068 | positive regulation of cell cycle process |
| HP:0025086 | Bloody mucoid diarrhea |
| HP:0025085 | Bloody diarrhea |
| HP:0025087 | Delayed recoil upon stretching of skin |
| HP:0025088 | Onychomadesis |
| HP:0025089 | Feculent vomiting |
| HP:0002013 | Vomiting |
| HP:0002017 | Nausea and vomiting |
| http://purl.obolibrary.org/obo/CHEBI_77450 | dicarboxylic acid monoamide(1-) |
| http://purl.obolibrary.org/obo/GO_0031667 | response to nutrient levels |
| http://purl.obolibrary.org/obo/GO_0016052 | carbohydrate catabolic process |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6149 | ITGAM (human) |
| http://purl.obolibrary.org/obo/GO_0004095 | CPT1A,B transfers PALM to CAR |
| http://purl.obolibrary.org/obo/GO_0004096 | 2 H2O2 => O2 + 2 H2O |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6138 | ITGA2B (human) |
| http://purl.obolibrary.org/obo/PR_P09923 | intestinal-type alkaline phosphatase (human) |
| http://purl.obolibrary.org/obo/PR_000021259 | renin isoform 1, signal peptide removed form |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6162 | ITGB7 (human) |
| http://purl.obolibrary.org/obo/CL_0001028 | CD7-positive lymphoid progenitor cell |
| http://purl.obolibrary.org/obo/CL_0001026 | CD34-positive, CD38-positive common myeloid progenitor |
| http://purl.obolibrary.org/obo/CL_0001027 | CD7-negative lymphoid progenitor cell |
| http://purl.obolibrary.org/obo/CL_0001012 | CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor |
| http://purl.obolibrary.org/obo/CL_0001024 | CD34-positive, CD38-negative hematopoietic stem cell |
| http://purl.obolibrary.org/obo/CL_0000037 | hematopoietic stem cell |
| http://purl.obolibrary.org/obo/CL_0001025 | Kit-positive, Sca1-positive common lymphoid progenitor |
| http://purl.obolibrary.org/obo/PATO_0000770 | uncoordinated |
| HP:0003623 | Neonatal onset |
| HP:0003621 | Juvenile onset |
| http://purl.obolibrary.org/obo/PATO_0000769 | coordinated |
| HP:0003637 | Reduced 4-Hydroxyphenylpyruvate dioxygenase level |
| HP:0003639 | Elevated urinary epinephrine |
| http://purl.obolibrary.org/obo/PATO_0000763 | paralysed |
| http://purl.obolibrary.org/obo/PATO_0000761 | decreased behavioural activity |
| http://purl.obolibrary.org/obo/PATO_0000760 | increased behavioural activity |
| http://purl.obolibrary.org/obo/PATO_0001707 | behavioural active |
| http://purl.obolibrary.org/obo/CL_0001023 | Kit-positive, CD34-positive common myeloid progenitor |
| http://purl.obolibrary.org/obo/CL_0001030 | CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor |
| http://purl.obolibrary.org/obo/CL_0001021 | CD34-positive, CD38-positive common lymphoid progenitor |
| http://purl.obolibrary.org/obo/CL_0000051 | common lymphoid progenitor |
| http://purl.obolibrary.org/obo/CL_0000995 | CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs |
| HP:0003648 | Lacticaciduria |
| HP:0003645 | Prolonged partial thromboplastin time |
| http://purl.obolibrary.org/obo/CL_0001055 | CD14-positive, CD16-low monocyte |
| http://purl.obolibrary.org/obo/CL_0002393 | intermediate monocyte |
| http://purl.obolibrary.org/obo/CL_0002397 | CD14-positive, CD16-positive monocyte |
| http://purl.obolibrary.org/obo/CHEBI_16498 | N-acylneuraminic acid |
| HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect |
| HP:0003646 | Bicarbonaturia |
| http://purl.obolibrary.org/obo/CL_0001054 | CD14-positive monocyte |
| http://purl.obolibrary.org/obo/CL_0000576 | monocyte |
| http://purl.obolibrary.org/obo/CL_0000766 | myeloid leukocyte |
| HP:0003641 | Hemoglobinuria |
| HP:0003640 | Foam cells in visceral organs and CNS |
| HP:0003643 | Sulfite oxidase deficiency |
| http://purl.obolibrary.org/obo/CL_0001050 | effector CD8-positive, alpha-beta T cell |
| http://purl.obolibrary.org/obo/CL_0000625 | CD8-positive, alpha-beta T cell |
| HP:0003642 | Type I transferrin isoform profile |
| http://purl.obolibrary.org/obo/CL_0001035 | bone cell |
| http://purl.obolibrary.org/obo/CL_0001044 | effector CD4-positive, alpha-beta T cell |
| http://purl.obolibrary.org/obo/CL_0000911 | effector T cell |
| http://purl.obolibrary.org/obo/CL_0000624 | CD4-positive, alpha-beta T cell |
| http://purl.obolibrary.org/obo/CL_0000791 | mature alpha-beta T cell |
| http://purl.obolibrary.org/obo/CL_0002419 | mature T cell |
| http://purl.obolibrary.org/obo/CL_0000789 | alpha-beta T cell |
| HP:0003656 | Decreased beta-glucocerebrosidase level |
| HP:0003655 | Reduced level of N-acetylglucosaminyltransferase II |
| HP:0003658 | Hypomethioninemia |
| HP:0003657 | Granular osmiophilic deposits (GROD) in cells |
| HP:0003652 | Recurrent myoglobinuria |
| HP:0003654 | Reduced dihydropyrimidine dehydrogenase level |
| http://purl.obolibrary.org/obo/CL_0001068 | ILC1 |
| http://purl.obolibrary.org/obo/GO_0006687 | glycosphingolipid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006664 | glycolipid metabolic process |
| http://purl.obolibrary.org/obo/GO_1903509 | liposaccharide metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0004177 | hemopoietic organ |
| http://purl.obolibrary.org/obo/UBERON_0004178 | aorta smooth muscle tissue |
| http://purl.obolibrary.org/obo/UBERON_0004695 | arterial system smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004237 | blood vessel smooth muscle |
| http://purl.obolibrary.org/obo/CL_1000410 | myocyte of atrioventricular node |
| http://purl.obolibrary.org/obo/CL_0002072 | nodal myocyte |
| http://purl.obolibrary.org/obo/CL_0002086 | specialized cardiac myocyte |
| http://purl.obolibrary.org/obo/CL_0000746 | cardiac muscle cell |
| http://purl.obolibrary.org/obo/CL_2000022 | cardiac septum native cell |
| http://purl.obolibrary.org/obo/CL_1000412 | endothelial cell of arteriole |
| http://purl.obolibrary.org/obo/CL_0001059 | common myeloid progenitor, CD34-positive |
| http://purl.obolibrary.org/obo/CL_0000049 | common myeloid progenitor |
| http://purl.obolibrary.org/obo/CL_1000414 | endothelial cell of venule |
| http://purl.obolibrary.org/obo/CL_1000413 | endothelial cell of artery |
| http://purl.obolibrary.org/obo/GO_0006672 | ceramide metabolic process |
| http://purl.obolibrary.org/obo/GO_0006665 | sphingolipid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006643 | membrane lipid metabolic process |
| http://purl.obolibrary.org/obo/CL_1000415 | epithelial cell of gall bladder |
| http://purl.obolibrary.org/obo/UBERON_0004184 | prostate gland stroma |
| http://purl.obolibrary.org/obo/UBERON_0004189 | glomerular endothelium |
| http://purl.obolibrary.org/obo/UBERON_0004188 | glomerular epithelium |
| http://purl.obolibrary.org/obo/CL_0001066 | erythroid progenitor cell, mammalian |
| http://purl.obolibrary.org/obo/CL_0000038 | erythroid progenitor cell |
| http://purl.obolibrary.org/obo/CL_0000764 | erythroid lineage cell |
| http://purl.obolibrary.org/obo/CL_0000763 | myeloid cell |
| http://purl.obolibrary.org/obo/CL_0000839 | myeloid lineage restricted progenitor cell |
| http://purl.obolibrary.org/obo/CL_0002031 | hematopoietic lineage restricted progenitor cell |
| http://purl.obolibrary.org/obo/CL_0001067 | group 1 innate lymphoid cell |
| http://purl.obolibrary.org/obo/CL_0001064 | malignant cell |
| http://purl.obolibrary.org/obo/CL_0001065 | innate lymphoid cell |
| http://purl.obolibrary.org/obo/UBERON_0004180 | mammary gland fat |
| http://purl.obolibrary.org/obo/CL_0001060 | hematopoietic oligopotent progenitor cell, lineage-negative |
| http://purl.obolibrary.org/obo/CL_0002032 | hematopoietic oligopotent progenitor cell |
| http://purl.obolibrary.org/obo/UBERON_0004182 | mammary gland cord |
| http://purl.obolibrary.org/obo/UBERON_0005154 | epithelial cord |
| http://purl.obolibrary.org/obo/UBERON_0004183 | placental labyrinth blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0022358 | placenta blood vessel |
| HP:0003609 | Foam cells with lamellar inclusion bodies |
| HP:0003651 | Foam cells |
| HP:0003607 | 4-Hydroxyphenylacetic aciduria |
| HP:0003606 | Absent urinary urothione |
| http://purl.obolibrary.org/obo/UBERON_0004198 | comma-shaped body |
| http://purl.obolibrary.org/obo/GO_0043648 | dicarboxylic acid metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0004199 | S-shaped body |
| http://purl.obolibrary.org/obo/UBERON_0004190 | renal glomerulus vasculature |
| HP:0003616 | Premature separation of centromeric heterochromatin |
| HP:0200024 | Premature chromatid separation |
| http://purl.obolibrary.org/obo/GO_0006693 | prostaglandin metabolic process |
| http://purl.obolibrary.org/obo/GO_0006692 | prostanoid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006690 | icosanoid metabolic process |
| http://purl.obolibrary.org/obo/GO_0033559 | unsaturated fatty acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006631 | fatty acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0004031 | AOX1 oxidises PXL to PDXate |
| http://purl.obolibrary.org/obo/GO_0031643 | positive regulation of myelination |
| http://purl.obolibrary.org/obo/GO_0031642 | negative regulation of myelination |
| http://purl.obolibrary.org/obo/GO_0031641 | regulation of myelination |
| http://purl.obolibrary.org/obo/GO_0004035 | ALPI dimer hydrolyses phosphate monoesters |
| http://purl.obolibrary.org/obo/GO_0006699 | bile acid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0006694 | steroid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0008610 | lipid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0008206 | bile acid metabolic process |
| HP:0003612 | Positive ferric chloride test |
| HP:0003614 | Trimethylaminuria |
| HP:0003610 | Fibroblast metachromasia |
| HP:0003653 | Cellular metachromasia |
| http://purl.obolibrary.org/obo/CL_1000444 | mesothelial cell of anterior chamber of eye |
| http://purl.obolibrary.org/obo/CL_1000448 | epithelial cell of sweat gland |
| http://purl.obolibrary.org/obo/CL_0002308 | epithelial cell of skin gland |
| http://purl.obolibrary.org/obo/CL_0000362 | epidermal cell |
| http://purl.obolibrary.org/obo/CL_0002159 | general ecto-epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002077 | ecto-epithelial cell |
| http://purl.obolibrary.org/obo/UBERON_0004139 | cardiogenic plate |
| http://purl.obolibrary.org/obo/UBERON_0004130 | cerebellar layer |
| http://purl.obolibrary.org/obo/UBERON_0016548 | central nervous system gray matter layer |
| HP:0025113 | Misophonia |
| HP:0025114 | Hypergranulosis |
| HP:0025115 | Civatte bodies |
| http://purl.obolibrary.org/obo/UBERON_0004133 | salivatory nucleus |
| HP:0025116 | Fetal distress |
| HP:0025117 | Rete ridge flattening |
| HP:0025119 | Violet lip discoloration |
| HP:0025118 | Lip discoloration |
| HP:0001169 | Broad palm |
| http://purl.obolibrary.org/obo/CL_1000450 | epithelial cell of glomerular capsule |
| HP:0025110 | Placoid macular lesion |
| HP:0001166 | Arachnodactyly |
| http://purl.obolibrary.org/obo/CL_1000456 | mesothelial cell of parietal peritoneum |
| http://purl.obolibrary.org/obo/CL_1000457 | mesothelial cell of visceral peritoneum |
| HP:0025109 | Reduced red cell pyruvate kinase level |
| http://purl.obolibrary.org/obo/UBERON_0004148 | cardiac vein |
| http://purl.obolibrary.org/obo/UBERON_0005194 | thoracic vein |
| http://purl.obolibrary.org/obo/CHEBI_28875 | tetradecanoic acid |
| http://purl.obolibrary.org/obo/CHEBI_26216 | potassium atom |
| http://purl.obolibrary.org/obo/CHEBI_26217 | potassium molecular entity |
| http://purl.obolibrary.org/obo/UBERON_0004140 | primary heart field |
| HP:0025101 | Dysgenesis of the hippocampus |
| http://purl.obolibrary.org/obo/UBERON_0004141 | heart tube |
| HP:0025102 | Dysgenesis of the basal ganglia |
| HP:0025103 | Umbilicated nodule |
| HP:0025105 | Nevus anemicus |
| HP:0001171 | Split hand |
| HP:0025106 | Nevus roseus |
| HP:0025107 | Cutis marmorata telangiectatica congenita |
| HP:0025108 | Angioma serpentinum |
| http://purl.obolibrary.org/obo/GO_0090368 | regulation of ornithine metabolic process |
| HP:0001178 | Ulnar claw |
| HP:0001176 | Large hands |
| HP:0001177 | Preaxial hand polydactyly |
| http://purl.obolibrary.org/obo/PATO_0000955 | fertile |
| http://purl.obolibrary.org/obo/PATO_0000950 | grey |
| http://purl.obolibrary.org/obo/CL_1000428 | stem cell of epidermis |
| http://purl.obolibrary.org/obo/CL_0000723 | somatic stem cell |
| HP:0001181 | Adducted thumb |
| HP:0001182 | Tapered finger |
| HP:0100807 | Long fingers |
| HP:0001180 | Hand oligodactyly |
| HP:0001188 | Hand clenching |
| http://purl.obolibrary.org/obo/CL_1000432 | conjunctival epithelial cell |
| http://purl.obolibrary.org/obo/PATO_0000946 | oblong |
| http://purl.obolibrary.org/obo/CL_1000434 | epithelial cell of external acoustic meatus |
| http://purl.obolibrary.org/obo/PATO_0000941 | vacuolated |
| http://purl.obolibrary.org/obo/CL_1000436 | epithelial cell of lacrimal sac |
| http://purl.obolibrary.org/obo/CL_0000068 | duct epithelial cell |
| HP:0001196 | Short umbilical cord |
| HP:0001195 | Single umbilical artery |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand |
| http://purl.obolibrary.org/obo/CHEBI_41865 | sebacic acid |
| http://purl.obolibrary.org/obo/UBERON_0004160 | proepicardium |
| http://purl.obolibrary.org/obo/UBERON_0004161 | septum transversum |
| http://purl.obolibrary.org/obo/UBERON_0006757 | lateral lingual swelling |
| http://purl.obolibrary.org/obo/UBERON_0006756 | median lingual swelling |
| HP:0001129 | Large central visual field defect |
| http://purl.obolibrary.org/obo/GO_0004423 | Defective IDS does not hydrolyse Heparan sulfate chain(5) |
| http://purl.obolibrary.org/obo/GO_0008484 | sulfuric ester hydrolase activity |
| HP:0025156 | Dependency on intravenous nutrition |
| HP:0025157 | Increased urinary sedoheptulose |
| HP:0003782 | Eunuchoid habitus |
| HP:0003781 | Excessive salivation |
| HP:0100755 | Abnormality of salivation |
| HP:0001128 | Trichiasis |
| HP:0003787 | Type 1 and type 2 muscle fiber minicore regions |
| http://purl.obolibrary.org/obo/CL_1000490 | mesothelial cell of peritoneum |
| HP:0025150 | Hypoganglionosis |
| HP:0001125 | Transient unilateral blurring of vision |
| HP:0000622 | Blurred vision |
| HP:0003789 | Minicore myopathy |
| HP:0025151 | Ganglioneuromatosis |
| HP:0001126 | Cryptophthalmos |
| HP:0025152 | Poor visual behavior for age |
| http://purl.obolibrary.org/obo/CL_1000492 | mesothelial cell of parietal pleura |
| HP:0003784 | Type 1 collagen overmodification |
| http://purl.obolibrary.org/obo/GO_0090331 | negative regulation of platelet aggregation |
| HP:0003783 | Externally rotated/abducted legs |
| HP:0025153 | Transient |
| http://purl.obolibrary.org/obo/CL_1000494 | nephron tubule epithelial cell |
| HP:0025154 | Portosystemic collateral veins |
| HP:0003785 | Decreased CSF homovanillic acid |
| http://purl.obolibrary.org/obo/CL_1000493 | mesothelial cell of visceral pleura |
| http://purl.obolibrary.org/obo/CL_0000082 | epithelial cell of lung |
| http://purl.obolibrary.org/obo/CL_1000491 | mesothelial cell of pleura |
| http://purl.obolibrary.org/obo/PATO_0000969 | dwarf-like |
| http://purl.obolibrary.org/obo/PR_P20138 | myeloid cell surface antigen CD33 (human) |
| http://purl.obolibrary.org/obo/PATO_0000967 | undulate |
| http://purl.obolibrary.org/obo/PATO_0000963 | opaque |
| http://purl.obolibrary.org/obo/UBERON_0006767 | head of femur |
| http://purl.obolibrary.org/obo/PATO_0000964 | transparent |
| http://purl.obolibrary.org/obo/PATO_0000957 | opacity |
| http://purl.obolibrary.org/obo/UBERON_0004104 | hairline |
| http://purl.obolibrary.org/obo/UBERON_0004105 | subungual region |
| http://purl.obolibrary.org/obo/UBERON_0004106 | crus of ear |
| http://purl.obolibrary.org/obo/UBERON_0004108 | clivus of occipital bone |
| http://purl.obolibrary.org/obo/UBERON_0004109 | cortex of humerus |
| http://purl.obolibrary.org/obo/UBERON_0004269 | upper arm connective tissue |
| HP:0003791 | Deposits immunoreactive to beta-amyloid protein |
| HP:0025145 | Rigors |
| HP:0025146 | Foveal degeneration |
| HP:0025147 | Beaten bronze macular sheen |
| HP:0025148 | Dark choroid |
| HP:0025149 | Atrophic muscularis propria |
| http://purl.obolibrary.org/obo/UBERON_0004100 | renal collecting system |
| http://purl.obolibrary.org/obo/UBERON_0004101 | nasolabial region |
| http://purl.obolibrary.org/obo/UBERON_0004103 | alveolar ridge |
| HP:0003799 | Marked delay in bone age |
| HP:0001139 | Choroideremia |
| HP:0003798 | Nemaline bodies |
| HP:0100303 | Muscle fiber cytoplasmatic inclusion bodies |
| http://purl.obolibrary.org/obo/UBERON_0006763 | epithelium of conjunctiva |
| http://purl.obolibrary.org/obo/UBERON_0010304 | non-keratinized stratified squamous epithelium |
| http://purl.obolibrary.org/obo/GO_0090327 | negative regulation of locomotion involved in locomotory behavior |
| HP:0001136 | Retinal arteriolar tortuosity |
| http://purl.obolibrary.org/obo/GO_0090326 | positive regulation of locomotion involved in locomotory behavior |
| http://purl.obolibrary.org/obo/GO_0090325 | regulation of locomotion involved in locomotory behavior |
| HP:0001137 | Alternating esotropia |
| HP:0025140 | Decreased serum estrone |
| http://purl.obolibrary.org/obo/UBERON_0006762 | suspensory ligament of lens |
| http://purl.obolibrary.org/obo/UBERON_0006761 | corneo-scleral junction |
| HP:0025141 | Gingival calcification |
| HP:0001135 | Chorioretinal dystrophy |
| HP:0025143 | Chills |
| http://purl.obolibrary.org/obo/GO_0090322 | regulation of superoxide metabolic process |
| HP:0025144 | Shivering |
| http://purl.obolibrary.org/obo/GO_0016416 | Defective LRAT does not esterify RBP1:atROL and FACYLs to atREs |
| http://purl.obolibrary.org/obo/UBERON_0004115 | blood vessel of tympanic cavity |
| http://purl.obolibrary.org/obo/UBERON_0004116 | nerve of tympanic cavity |
| http://purl.obolibrary.org/obo/UBERON_0004117 | pharyngeal pouch |
| http://purl.obolibrary.org/obo/UBERON_0004118 | vasculature of iris |
| HP:0001141 | Severely reduced visual acuity |
| HP:0025134 | Increased serum estradiol |
| HP:0025136 | Increased serum estriol |
| HP:0025137 | Decreased serum estriol |
| HP:0025135 | Abnormal serum estriol |
| http://purl.obolibrary.org/obo/UBERON_0004110 | midnasal cavity |
| HP:0001140 | Limbal dermoid |
| HP:0025139 | Increased serum estrone |
| HP:0025138 | Abnormal serum estrone |
| http://purl.obolibrary.org/obo/UBERON_0004114 | tympanic cavity |
| http://purl.obolibrary.org/obo/UBERON_0006776 | annular epiphysis |
| http://purl.obolibrary.org/obo/GO_0090358 | positive regulation of tryptophan metabolic process |
| HP:0001149 | Lattice corneal dystrophy |
| http://purl.obolibrary.org/obo/GO_0090357 | regulation of tryptophan metabolic process |
| HP:0025130 | Decreased small intestinal mucosa lactase level |
| HP:0025131 | Finger swelling |
| http://purl.obolibrary.org/obo/GO_0016406 | carnitine O-acyltransferase activity |
| http://purl.obolibrary.org/obo/GO_0008374 | DLCL is acylated to MLCL by LCLAT1 (ER) |
| http://purl.obolibrary.org/obo/GO_0016409 | ZDHHC2 transfers PALM from PALM-CoA to CKAP4 |
| http://purl.obolibrary.org/obo/UBERON_0004126 | trabecular layer of ventricle |
| http://purl.obolibrary.org/obo/UBERON_0004128 | optic vesicle |
| HP:0025123 | White streaks/specks on enamel. |
| HP:0025124 | Fragile teeth |
| HP:0001153 | Septate vagina |
| HP:0001151 | Impaired horizontal smooth pursuit |
| HP:0025126 | Oral hairy leukoplakia |
| HP:0025125 | White lesion of the oral mucosa |
| HP:0025127 | Actinic keratosis |
| http://purl.obolibrary.org/obo/UBERON_0004122 | genitourinary system |
| HP:0025128 | Reduced intraabdominal adipose tissue |
| HP:0025129 | Abnormal small intestinal mucosa morphology |
| http://purl.obolibrary.org/obo/UBERON_0004124 | myocardium trabecular layer |
| http://purl.obolibrary.org/obo/UBERON_0004123 | myocardial layer |
| HP:0025122 | Sawtooth acanthosis |
| HP:0025092 | Epidermal acanthosis |
| http://purl.obolibrary.org/obo/UBERON_0006718 | medial pterygoid muscle |
| http://purl.obolibrary.org/obo/UBERON_0006716 | mesopodium region |
| http://purl.obolibrary.org/obo/UBERON_0006715 | radio-ulna |
| http://purl.obolibrary.org/obo/UBERON_0006719 | lateral pterygoid muscle |
| HP:0025192 | Subtentorial periventricular white matter hyperdensity |
| HP:0025193 | Posterolateral diaphragmatic hernia |
| HP:0025194 | Morgagni diaphragmatic hernia |
| HP:0025195 | Central diaphragmatic hernia |
| http://purl.obolibrary.org/obo/CHEBI_16831 | 3-hydroxy-3-methylglutaric acid |
| HP:0025196 | Increased total iron binding capacity |
| HP:0025197 | Inclusion body fibromatosis |
| HP:0025198 | Inflammatory cap polyp |
| http://purl.obolibrary.org/obo/UBERON_0006723 | cochlear modiolus |
| http://purl.obolibrary.org/obo/UBERON_0006722 | manubrium of malleus |
| HP:0025181 | Abdominal aseptic abscess |
| http://purl.obolibrary.org/obo/UBERON_0006720 | pterygoid muscle |
| HP:0025182 | Localized area of pendulous skin |
| HP:0025186 | Marcus Gunn jaw winking synkinesis |
| HP:0025180 | Centrilobular ground-glass opacification on pulmonary HRCT |
| HP:0025178 | Subpleural interstitial thickening |
| HP:0031630 | Abnormal subpleural morphology |
| http://purl.obolibrary.org/obo/CHEBI_16813 | galactitol |
| HP:0025171 | Rosette-forming glioneuronal tumor |
| HP:0025170 | Neuronal/glioneuronal neoplasm of the central nervous system |
| HP:0025172 | Smooth septal thickening on pulmonary HRCT |
| HP:0025173 | Nodular septal thickening on pulmonary HRCT |
| HP:0025174 | Irregular septal thickening on pulmonary HRCT |
| http://purl.obolibrary.org/obo/CHEBI_16810 | 2-oxoglutarate(2-) |
| HP:0025175 | Honeycomb lung |
| HP:0025176 | Intralobular interstitial thickening |
| http://purl.obolibrary.org/obo/CHEBI_16811 | methionine |
| HP:0025177 | Peribronchovascular interstitial thickening |
| http://purl.obolibrary.org/obo/CHEBI_28815 | heparan sulfate |
| http://purl.obolibrary.org/obo/CHEBI_35721 | heparan sulfates |
| HP:0025167 | Fragmented elastic fibers in the dermis |
| HP:0025168 | Left ventricular diastolic dysfunction |
| HP:0025169 | Left ventricular systolic dysfunction |
| http://purl.obolibrary.org/obo/CHEBI_16827 | corticosterone |
| http://purl.obolibrary.org/obo/CHEBI_47909 | 3-oxo-Delta(4) steroid |
| http://purl.obolibrary.org/obo/CHEBI_47788 | 3-oxo steroid |
| http://purl.obolibrary.org/obo/CHEBI_35346 | 11beta-hydroxy steroid |
| http://purl.obolibrary.org/obo/CHEBI_35344 | 21-hydroxy steroid |
| HP:0025161 | Frequent temper tantrums |
| HP:0025162 | Severe temper tantrums |
| HP:0025160 | Abnormal temper tantrums |
| HP:0025163 | Abnormality of optic chiasm morphology |
| HP:0025164 | Increased number of elastic fibers in the dermis |
| HP:0025165 | Clumping of elastic fibers in the dermis |
| HP:0025166 | Thickened elastic fibers in the dermis |
| HP:0025082 | Abnormal cutaneous elastic fiber morphology |
| http://purl.obolibrary.org/obo/CHEBI_41808 | decane |
| http://purl.obolibrary.org/obo/CHEBI_28842 | octadecanoic acid |
| http://purl.obolibrary.org/obo/CHEBI_39418 | straight-chain saturated fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_59202 | straight-chain fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_28869 | menadione |
| http://purl.obolibrary.org/obo/CHEBI_16865 | gamma-aminobutyric acid |
| http://purl.obolibrary.org/obo/PR_P09838 | DNA nucleotidylexotransferase (mouse) |
| http://purl.obolibrary.org/obo/PR_P10810 | monocyte differentiation antigen CD14 (mouse) |
| http://purl.obolibrary.org/obo/GO_0043931 | ossification involved in bone maturation |
| http://purl.obolibrary.org/obo/GO_0043932 | ossification involved in bone remodeling |
| http://purl.obolibrary.org/obo/CHEBI_90708 | retinoic acid receptor modulator |
| http://purl.obolibrary.org/obo/CHEBI_90709 | nuclear receptor modulator |
| http://purl.obolibrary.org/obo/PR_P0CW03 | lymphocyte antigen 6C2 (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_38161 | chelator |
| http://purl.obolibrary.org/obo/CHEBI_52214 | ligand |
| HP:0003749 | Pelvic girdle muscle weakness |
| http://purl.obolibrary.org/obo/PATO_0000891 | male fertile |
| http://purl.obolibrary.org/obo/PATO_0000892 | female sterile |
| http://purl.obolibrary.org/obo/PATO_0000890 | male sterile |
| http://purl.obolibrary.org/obo/PATO_0000956 | sterile |
| http://purl.obolibrary.org/obo/UBERON_0004096 | odontoid process of cervical vertebra 2 |
| http://purl.obolibrary.org/obo/UBERON_0004098 | tibial plateaux |
| http://purl.obolibrary.org/obo/UBERON_0004099 | joint space of elbow |
| HP:0003744 | Genetic anticipation with paternal anticipation bias |
| HP:0003743 | Genetic anticipation |
| http://purl.obolibrary.org/obo/UBERON_0004090 | periorbital region |
| HP:0003745 | Sporadic |
| http://purl.obolibrary.org/obo/UBERON_0004092 | hypothalamus-pituitary axis |
| HP:0003740 | Myotonia with warm-up phenomenon |
| HP:0003741 | Congenital muscular dystrophy |
| HP:0003759 | Hypoplasia of lymphatic vessels |
| http://purl.obolibrary.org/obo/PATO_0000888 | female fertile |
| http://purl.obolibrary.org/obo/GO_0004333 | (S)-Malate <=> Fumarate + H2O |
| HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers |
| HP:0012084 | Abnormality of skeletal muscle fiber size |
| HP:0003756 | Skeletal myopathy |
| HP:0003750 | Increased muscle fatiguability |
| http://purl.obolibrary.org/obo/GO_0016311 | dephosphorylation |
| HP:0003752 | Episodic flaccid weakness |
| HP:0010547 | Muscle flaccidity |
| http://purl.obolibrary.org/obo/GO_0090317 | negative regulation of intracellular protein transport |
| HP:0001107 | Ocular albinism |
| HP:0003760 | Percussion-induced rapid rolling muscle contractions |
| HP:0003765 | Psoriasiform dermatitis |
| HP:0001106 | Periorbital hyperpigmentation |
| http://purl.obolibrary.org/obo/GO_0090316 | positive regulation of intracellular protein transport |
| http://purl.obolibrary.org/obo/GO_0033157 | regulation of intracellular protein transport |
| HP:0001104 | Macular hypoplasia |
| HP:0001101 | Iritis |
| HP:0003762 | Uterus didelphys |
| HP:0003761 | Calcinosis |
| HP:0001102 | Angioid streaks of the fundus |
| HP:0003763 | Bruxism |
| http://purl.obolibrary.org/obo/GO_0031966 | mitochondrial membrane |
| http://purl.obolibrary.org/obo/GO_0031967 | organelle envelope |
| HP:0001118 | Juvenile cataract |
| HP:0001119 | Keratoglobus |
| HP:0100692 | Increased corneal curvature |
| HP:0100689 | Decreased corneal thickness |
| http://purl.obolibrary.org/obo/PR_P34810 | macrosialin (human) |
| HP:0003771 | Pulp stones |
| HP:0006479 | Abnormality of the dental pulp |
| http://purl.obolibrary.org/obo/GO_0004347 | D-fructose 6-phosphate <=> alpha-D-Glucose 6-phosphate |
| HP:0003777 | Pili torti |
| HP:0001116 | Macular coloboma |
| HP:0000480 | Retinal coloboma |
| http://purl.obolibrary.org/obo/GO_0016331 | morphogenesis of embryonic epithelium |
| HP:0001117 | Sudden loss of visual acuity |
| HP:0003779 | Antegonial notching of mandible |
| HP:0001114 | Xanthelasma |
| HP:0001115 | Posterior polar cataract |
| HP:0001112 | Leber optic atrophy |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0012622 | Chronic kidney disease |
| HP:0003707 | Calf muscle pseudohypertrophy |
| HP:0003704 | Scapuloperoneal weakness |
| http://purl.obolibrary.org/obo/UBERON_0018691 | ventral side of post-anal tail |
| http://purl.obolibrary.org/obo/GO_0031975 | envelope |
| http://purl.obolibrary.org/obo/UBERON_0018692 | dorsal side of post-anal tail |
| http://purl.obolibrary.org/obo/UBERON_0004053 | external male genitalia |
| http://purl.obolibrary.org/obo/UBERON_0004176 | external genitalia |
| http://purl.obolibrary.org/obo/UBERON_0004054 | internal male genitalia |
| http://purl.obolibrary.org/obo/UBERON_0004058 | biliary ductule |
| HP:0003700 | Generalized amyotrophy |
| HP:0003719 | Muscle mounding |
| HP:0010548 | Percussion myotonia |
| http://purl.obolibrary.org/obo/GO_0031987 | locomotion involved in locomotory behavior |
| HP:0003715 | Myofibrillar myopathy |
| HP:0003716 | Generalized muscular appearance from birth |
| http://purl.obolibrary.org/obo/GO_0031981 | nuclear lumen |
| http://purl.obolibrary.org/obo/GO_0070013 | intracellular organelle lumen |
| http://purl.obolibrary.org/obo/GO_0043233 | organelle lumen |
| http://purl.obolibrary.org/obo/GO_0031974 | membrane-enclosed lumen |
| http://purl.obolibrary.org/obo/UBERON_0004064 | neural tube basal plate |
| http://purl.obolibrary.org/obo/UBERON_0004066 | frontonasal prominence |
| http://purl.obolibrary.org/obo/UBERON_0004067 | lateral nasal prominence |
| http://purl.obolibrary.org/obo/UBERON_0004068 | medial nasal prominence |
| http://purl.obolibrary.org/obo/UBERON_0009292 | embryonic nasal process |
| HP:0003710 | Exercise-induced muscle cramps |
| HP:0003713 | Muscle fiber necrosis |
| http://purl.obolibrary.org/obo/UBERON_0004062 | neural tube marginal layer |
| HP:0003729 | Enteroviral dermatomyositis syndrome |
| HP:0002743 | Recurrent enteroviral infections |
| HP:0003725 | Firm muscles |
| http://purl.obolibrary.org/obo/CL_1000505 | kidney pelvis cell |
| HP:0003722 | Neck flexor weakness |
| HP:0000467 | Neck muscle weakness |
| HP:0003724 | Shoulder girdle muscle atrophy |
| HP:0003720 | Generalized muscle hypertrophy |
| HP:0003737 | Mitochondrial myopathy |
| HP:0003736 | Autophagic vacuoles |
| http://purl.obolibrary.org/obo/CL_1000510 | kidney glomerular epithelial cell |
| HP:0003738 | Exercise-induced myalgia |
| http://purl.obolibrary.org/obo/UBERON_0004085 | labium majora |
| http://purl.obolibrary.org/obo/UBERON_0004088 | orbital region |
| http://purl.obolibrary.org/obo/UBERON_0004089 | midface |
| HP:0003733 | Thigh hypertrophy |
| HP:0008968 | Muscle hypertrophy of the lower extremities |
| http://purl.obolibrary.org/obo/CHEBI_90799 | dipeptide zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_60466 | peptide zwitterion |
| HP:0003731 | Quadriceps muscle weakness |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0003730 | EMG: myotonic runs |
| http://purl.obolibrary.org/obo/UBERON_0004016 | dermatome |
| http://purl.obolibrary.org/obo/CHEBI_26106 | phylloquinones |
| HP:0025233 | Sleep paralysis |
| HP:0001285 | Spastic tetraparesis |
| HP:0025236 | Somnambulism |
| HP:0001283 | Bulbar palsy |
| HP:0025237 | Confusional arousal |
| HP:0025238 | Foot pain |
| HP:0001281 | Tetany |
| http://purl.obolibrary.org/obo/UBERON_0004014 | labium minora |
| http://purl.obolibrary.org/obo/UBERON_0004084 | genital labium |
| HP:0025239 | Subhyaloid hemorrhage |
| http://purl.obolibrary.org/obo/UBERON_0004015 | embryonic-extraembryonic boundary |
| http://purl.obolibrary.org/obo/UBERON_0006677 | surface of epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006675 | venous valve |
| http://purl.obolibrary.org/obo/UBERON_0006673 | mandibular canal |
| HP:0001289 | Confusion |
| http://purl.obolibrary.org/obo/UBERON_0006671 | orbital fat pad |
| http://purl.obolibrary.org/obo/UBERON_0006670 | central tendon of diaphragm |
| HP:0025232 | Bursitis |
| HP:0025231 | Abnormality of synovial bursa morphology |
| http://purl.obolibrary.org/obo/UBERON_0006689 | frenulum of tongue |
| http://purl.obolibrary.org/obo/UBERON_0005020 | mucosa of tongue |
| http://purl.obolibrary.org/obo/UBERON_0036293 | oral frenulum |
| http://purl.obolibrary.org/obo/UBERON_0018667 | neck of scapula |
| HP:0025222 | Triggered by sleep deprivation |
| HP:0025223 | Triggered by smoking |
| HP:0025224 | Triggered by sodium ingestion |
| HP:0025225 | Triggered by sound |
| http://purl.obolibrary.org/obo/UBERON_0004022 | germinal neuroepithelium |
| HP:0025226 | Triggered by stress |
| HP:0025227 | Triggered by excitement |
| HP:0025228 | Triggered by sudden movement |
| HP:0025229 | Triggered by vestibular stimulation |
| http://purl.obolibrary.org/obo/UBERON_0006686 | spinal vein |
| http://purl.obolibrary.org/obo/GO_0006909 | phagocytosis |
| http://purl.obolibrary.org/obo/UBERON_0006683 | posterior fontanelle |
| http://purl.obolibrary.org/obo/UBERON_0002221 | fontanelle |
| http://purl.obolibrary.org/obo/UBERON_0006682 | hypoglossal canal |
| HP:0025220 | Triggered by menstruation |
| HP:0025221 | Triggered by pregnancy |
| http://purl.obolibrary.org/obo/UBERON_0018673 | neck of fibula |
| http://purl.obolibrary.org/obo/UBERON_0018674 | heart vasculature |
| http://purl.obolibrary.org/obo/CL_1000546 | kidney medulla collecting duct epithelial cell |
| http://purl.obolibrary.org/obo/CL_0001201 | B cell, CD19-positive |
| http://purl.obolibrary.org/obo/CL_0000236 | B cell |
| http://purl.obolibrary.org/obo/CL_0001200 | lymphocyte of B lineage, CD19-positive |
| http://purl.obolibrary.org/obo/CL_0000945 | lymphocyte of B lineage |
| HP:0025219 | Triggered by vaccination |
| http://purl.obolibrary.org/obo/CL_1000547 | kidney inner medulla collecting duct epithelial cell |
| http://purl.obolibrary.org/obo/CL_1000549 | kidney cortex collecting duct epithelial cell |
| http://purl.obolibrary.org/obo/CL_1001225 | kidney collecting duct cell |
| http://purl.obolibrary.org/obo/CHEBI_28789 | L-glucitol |
| http://purl.obolibrary.org/obo/CHEBI_30911 | glucitol |
| http://purl.obolibrary.org/obo/GO_0006941 | striated muscle contraction |
| http://purl.obolibrary.org/obo/CHEBI_26127 | phytylnaphthoquinone |
| HP:0025211 | Triggered by ethanol ingestion |
| HP:0025212 | Triggered by fasting |
| HP:0025213 | Triggered by galactose ingestion |
| HP:0025214 | Triggered by heat |
| HP:0025215 | Triggered by febrile illness |
| http://purl.obolibrary.org/obo/UBERON_0004035 | cortical subplate |
| HP:0025216 | Triggered by heavy meal |
| HP:0025217 | Triggered by high-fat diet |
| HP:0025218 | Triggered by hyperventilation |
| http://purl.obolibrary.org/obo/UBERON_0018679 | thoracic splanchnic nerve |
| http://purl.obolibrary.org/obo/UBERON_0006694 | cerebellum vasculature |
| http://purl.obolibrary.org/obo/UBERON_0006692 | vertebral canal |
| HP:0025210 | Triggered by glucose ingestion |
| http://purl.obolibrary.org/obo/CHEBI_16782 | (S)-2-hydroxyglutarate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_11596 | 2-hydroxyglutarate(2-) |
| HP:0025209 | Triggered by fructose ingestion |
| HP:0025208 | Triggered by carbohydrate ingestion |
| http://purl.obolibrary.org/obo/UBERON_0004041 | spleen primary B follicle |
| http://purl.obolibrary.org/obo/UBERON_0010422 | primary nodular lymphoid tissue |
| HP:0025200 | Muscle fiber actin filament accumulation |
| HP:0100299 | Muscle fiber inclusion bodies |
| http://purl.obolibrary.org/obo/UBERON_0004042 | spleen secondary B follicle |
| HP:0025202 | Elevated apolipoprotein A-IV level |
| HP:0025201 | Abnormal apolipoprotein level |
| HP:0025203 | Caput medusae |
| HP:0025205 | Triggered by breast feeding |
| HP:0025206 | Triggered by cold |
| HP:0025207 | Triggered by dehydration |
| http://purl.obolibrary.org/obo/UBERON_0004040 | cortical intermediate zone |
| http://purl.obolibrary.org/obo/UBERON_0014950 | layer of developing cerebral cortex |
| http://purl.obolibrary.org/obo/UBERON_0006635 | anterior abdominal wall |
| HP:0025277 | Gustatory sweating |
| HP:0025278 | Cold-induced sweating |
| HP:0001241 | Capitate-hamate fusion |
| HP:0004259 | Abnormality of the hamate bone |
| HP:0004262 | Abnormality of the capitate bone |
| HP:0025279 | Migratory |
| http://purl.obolibrary.org/obo/GO_0006956 | complement activation |
| http://purl.obolibrary.org/obo/GO_0006959 | humoral immune response |
| HP:0001248 | Short tubular bones of the hand |
| http://purl.obolibrary.org/obo/UBERON_0006633 | coracoid process of scapula |
| http://purl.obolibrary.org/obo/UBERON_0006632 | musculo-phrenic artery |
| http://purl.obolibrary.org/obo/UBERON_0002057 | phrenic artery |
| HP:0025271 | Esophageal spasms |
| HP:0025272 | Melasma |
| HP:0025273 | Achilles tendonitis |
| HP:0025230 | Tendonitis |
| HP:0025274 | Ovarian dermoid cyst |
| HP:0012226 | Ovarian teratoma |
| HP:0001245 | Small thenar eminence |
| HP:0025275 | Lateral |
| http://purl.obolibrary.org/obo/UBERON_0006648 | adventitia of seminal vesicle |
| http://purl.obolibrary.org/obo/UBERON_0006647 | adventitia of ductus deferens |
| http://purl.obolibrary.org/obo/UBERON_0006646 | muscle layer of epididymis |
| http://purl.obolibrary.org/obo/UBERON_0006645 | adventitia of epididymis |
| HP:0025266 | Cervical osteoarthritis |
| HP:0025268 | Stuttering |
| http://purl.obolibrary.org/obo/CHEBI_28790 | serotonin |
| http://purl.obolibrary.org/obo/CHEBI_84729 | hydroxyindoles |
| HP:0025269 | Panic attack |
| http://purl.obolibrary.org/obo/UBERON_0006642 | muscle layer of oviduct |
| http://purl.obolibrary.org/obo/GO_0090206 | negative regulation of cholesterol metabolic process |
| HP:0025260 | Stiff wrist |
| HP:0025261 | Stiff finger |
| http://purl.obolibrary.org/obo/GO_0090205 | positive regulation of cholesterol metabolic process |
| http://purl.obolibrary.org/obo/GO_0090181 | regulation of cholesterol metabolic process |
| HP:0025262 | Stiff hip |
| HP:0001256 | Intellectual disability, mild |
| HP:0025263 | Stiff knee |
| HP:0025264 | Stiff ankle |
| HP:0025265 | Stiff toe |
| HP:0001254 | Lethargy |
| http://purl.obolibrary.org/obo/GO_0018958 | phenol-containing compound metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0006658 | interphalangeal joint |
| http://purl.obolibrary.org/obo/UBERON_0006657 | glenoid fossa |
| HP:0025255 | Ameliorated by pregnancy |
| HP:0001262 | Excessive daytime somnolence |
| HP:0025256 | Ameliorated by heat |
| HP:0025257 | Ameliorated by carbohydrate ingestion |
| HP:0025258 | Stiff neck |
| HP:0025259 | Stiff elbow |
| http://purl.obolibrary.org/obo/UBERON_0006655 | septum of scrotum |
| http://purl.obolibrary.org/obo/CHEBI_38147 | cardiotonic drug |
| http://purl.obolibrary.org/obo/CHEBI_35554 | cardiovascular drug |
| http://purl.obolibrary.org/obo/UBERON_0006653 | glans clitoris |
| HP:0025250 | Closed comedo |
| HP:0001269 | Hemiparesis |
| http://purl.obolibrary.org/obo/UBERON_0006652 | muscular layer of vagina |
| HP:0025251 | Open comedo |
| HP:0025252 | Geographic tongue |
| HP:0025253 | Claustrophobia |
| HP:0100852 | Abnormal fear/anxiety-related behavior |
| HP:0001264 | Spastic diplegia |
| http://purl.obolibrary.org/obo/UBERON_0006668 | carotid canal |
| http://purl.obolibrary.org/obo/UBERON_0018645 | incisor region of dentition |
| http://purl.obolibrary.org/obo/UBERON_0004008 | cerebellar plate |
| http://purl.obolibrary.org/obo/GO_0006974 | cellular response to DNA damage stimulus |
| http://purl.obolibrary.org/obo/GO_0033554 | cellular response to stress |
| HP:0025244 | Subretinal pigment epithelium hemorrhage |
| HP:0025246 | Trichilemmal cyst |
| http://purl.obolibrary.org/obo/GO_0006968 | cellular defense response |
| HP:0001271 | Polyneuropathy |
| HP:0025247 | Dermoid cyst |
| http://purl.obolibrary.org/obo/UBERON_0004000 | tarsal gland acinus |
| HP:0025248 | Eruptive vellus hair cyst |
| HP:0025245 | Cutaneous cyst |
| http://purl.obolibrary.org/obo/UBERON_0004001 | olfactory bulb layer |
| HP:0025249 | Comedo |
| http://purl.obolibrary.org/obo/UBERON_0006664 | greater palatine artery |
| HP:0025240 | Preretinal hemorrhage |
| http://purl.obolibrary.org/obo/UBERON_0006661 | epicranial aponeurosis |
| HP:0025241 | Flame-shaped retinal hemorrhage |
| HP:0025242 | Dot-and-blot retinal hemorrhage |
| HP:0031805 | Intraretinal hemorrhage |
| http://purl.obolibrary.org/obo/GO_0043903 | regulation of symbiotic process |
| http://purl.obolibrary.org/obo/CHEBI_16716 | benzene |
| http://purl.obolibrary.org/obo/CHEBI_134179 | volatile organic compound |
| http://purl.obolibrary.org/obo/UBERON_0006608 | corpus cavernosum clitoridis |
| http://purl.obolibrary.org/obo/UBERON_0006606 | mandibular symphysis |
| http://purl.obolibrary.org/obo/UBERON_0006603 | presumptive mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0006601 | presumptive ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0006609 | corpus cavernosum |
| http://purl.obolibrary.org/obo/UBERON_0006600 | presumptive enteric nervous system |
| http://purl.obolibrary.org/obo/UBERON_0006617 | left external ear |
| http://purl.obolibrary.org/obo/UBERON_0006616 | right external ear |
| HP:0025291 | Lower-body predominance |
| HP:0025292 | Acral |
| HP:0025293 | Distributed along Blaschko lines |
| HP:0025294 | Dermatomal |
| HP:0025295 | Herpetiform |
| HP:0025296 | Morbilliform |
| HP:0025297 | Prolonged |
| http://purl.obolibrary.org/obo/UBERON_0018600 | lower second primary molar tooth |
| HP:0025290 | Upper-body predominance |
| HP:0025289 | Cervical lymphadenopathy |
| HP:0002716 | Lymphadenopathy |
| http://purl.obolibrary.org/obo/CHEBI_16708 | adenine |
| http://purl.obolibrary.org/obo/CHEBI_20706 | 6-aminopurines |
| HP:0025281 | Sharp |
| HP:0025282 | Dull |
| HP:0025283 | Tender |
| HP:0025284 | Sleep-interrupting |
| HP:0025280 | Pain characteristic |
| HP:0025286 | Aggravated by activity |
| HP:0025287 | Axial |
| http://purl.obolibrary.org/obo/CHEBI_16765 | tryptamine |
| http://purl.obolibrary.org/obo/CHEBI_27162 | tryptamines |
| http://purl.obolibrary.org/obo/CHEBI_16737 | creatinine |
| http://purl.obolibrary.org/obo/CHEBI_16742 | orotic acid |
| http://purl.obolibrary.org/obo/CHEBI_63070 | beta-alaninate |
| http://purl.obolibrary.org/obo/CHEBI_49095 | beta-amino-acid anion |
| HP:0003809 | Reduced intrathoracic adipose tissue |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0003805 | Rimmed vacuoles |
| HP:0003800 | Muscle abnormality related to mitochondrial dysfunction |
| HP:0003819 | Death in childhood |
| HP:0003810 | Late-onset distal muscle weakness |
| HP:0003811 | Neonatal death |
| HP:0003869 | Humeral cortical thinning |
| HP:0002753 | Thin bony cortex |
| HP:0003868 | Humeral cortical thickening |
| http://purl.obolibrary.org/obo/CL_1000600 | lower urinary tract cell |
| http://purl.obolibrary.org/obo/CL_1000606 | kidney nerve cell |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6342 | KIT (human) |
| HP:0003865 | Bowed humerus |
| HP:0003864 | Bifid humerus |
| HP:0003866 | Coarse humeral trabeculae |
| HP:0003863 | Angulated humerus |
| HP:0003862 | Absent humerus |
| HP:0003879 | Humeral pseudarthrosis |
| HP:0001217 | Clubbing |
| HP:0003870 | Crumpled humerus |
| HP:0003876 | Osteoporotic humerus |
| HP:0003875 | Humeral lytic defects |
| HP:0001216 | Delayed ossification of carpal bones |
| HP:0004052 | Delayed ossification of the hand bones |
| HP:0003878 | Periosteal new bone of humerus |
| HP:0003877 | Oval transradiancy of humerus |
| HP:0003872 | Humeral exostoses |
| HP:0001212 | Prominent fingertip pads |
| HP:0003874 | Humerus varus |
| HP:0003880 | Sclerotic foci of the humerus |
| HP:0003881 | Humeral sclerosis |
| HP:0003886 | Wide humerus |
| HP:0001227 | Abnormality of the thenar eminence |
| HP:0003888 | Flattened humeral heads |
| HP:0001225 | Wrist swelling |
| HP:0003883 | Tapered humerus |
| HP:0001222 | Spatulate thumbs |
| HP:0003882 | Slender humerus |
| HP:0001223 | Pointed proximal second through fifth metacarpals |
| HP:0006119 | Proximal tapering of metacarpals |
| HP:0003885 | Undermodeled humerus |
| HP:0003884 | Triangular humerus |
| HP:0001239 | Wrist flexion contracture |
| http://purl.obolibrary.org/obo/CHEBI_26078 | phosphoric acid |
| http://purl.obolibrary.org/obo/CHEBI_59698 | phosphoric acids |
| http://purl.obolibrary.org/obo/CHEBI_33457 | phosphorus oxoacid |
| http://purl.obolibrary.org/obo/CHEBI_33408 | pnictogen oxoacid |
| HP:0003890 | Prominent deltoid tuberosities |
| HP:0003889 | Abnormality of the deltoid tuberosities |
| HP:0001230 | Broad metacarpals |
| HP:0003892 | Absent humeral epiphyseal ossification |
| HP:0001238 | Slender finger |
| HP:0003899 | Round humeral epiphyses |
| HP:0003894 | Delayed humeral epiphyseal ossification |
| HP:0003893 | Advanced ossification of the humeral epiphysis |
| HP:0001234 | Hitchhiker thumb |
| HP:0003896 | Irregular humeral epiphyses |
| HP:0003895 | Flattened humeral epiphyses |
| HP:0001232 | Nail bed telangiectasia |
| HP:0003828 | Variable expressivity |
| http://purl.obolibrary.org/obo/UBERON_0018575 | upper first secondary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018576 | upper second secondary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018578 | lower first secondary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018608 | permanent molar tooth 1 |
| http://purl.obolibrary.org/obo/UBERON_0018579 | lower second secondary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018607 | permanent molar tooth 2 |
| HP:0003826 | Stillbirth |
| http://purl.obolibrary.org/obo/UBERON_0018570 | lower lateral secondary incisor tooth |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6307 | KDR (human) |
| http://purl.obolibrary.org/obo/UBERON_0006596 | presumptive blood |
| http://purl.obolibrary.org/obo/UBERON_0006595 | presumptive endoderm |
| HP:0003836 | Stippled calcification of the shoulder |
| http://purl.obolibrary.org/obo/UBERON_0018588 | upper first primary molar tooth |
| HP:0003835 | Shoulder subluxation |
| http://purl.obolibrary.org/obo/UBERON_0018589 | lower first primary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018644 | deciduous molar tooth 1 |
| HP:0003837 | Soft-tissue ossification around the shoulders |
| HP:0011986 | Ectopic ossification |
| HP:0003831 | Age-dependent penetrance |
| HP:0003829 | Incomplete penetrance |
| HP:0003812 | Phenotypic variability |
| HP:0003834 | Shoulder dislocation |
| HP:0003833 | Laterally deficient tibial plateaux |
| HP:0003832 | Abnormality of the tibial plateaux |
| http://purl.obolibrary.org/obo/GO_0016234 | inclusion body |
| http://purl.obolibrary.org/obo/UBERON_0018594 | upper lateral primary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018604 | upper lateral incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018595 | lower central primary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018596 | lower lateral primary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018602 | lower lateral incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018597 | upper primary canine tooth |
| http://purl.obolibrary.org/obo/UBERON_0018598 | lower primary canine tooth |
| http://purl.obolibrary.org/obo/UBERON_0018583 | primary canine tooth |
| http://purl.obolibrary.org/obo/UBERON_0018599 | upper second primary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018643 | deciduous molar tooth 2 |
| http://purl.obolibrary.org/obo/UBERON_0018606 | molar tooth 2 |
| http://purl.obolibrary.org/obo/GO_0043891 | glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity |
| HP:0003848 | Cupped metaphyses of the upper limbs |
| http://purl.obolibrary.org/obo/UBERON_0018593 | upper central primary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018603 | upper central incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018591 | upper primary incisor tooth |
| HP:0003843 | Round epiphyses of the upper limbs |
| http://purl.obolibrary.org/obo/CHEBI_63046 | emulsifier |
| HP:0400002 | Extra concha fold |
| HP:0400001 | Chin with vertical crease |
| HP:0400000 | Tall chin |
| HP:0400005 | Short ear |
| HP:0400004 | Long ear |
| HP:0400003 | Focal absence of the external ear |
| HP:0400008 | Menometrorrhagia |
| HP:0400007 | Polymenorrhea |
| HP:0000140 | Abnormality of the menstrual cycle |
| HP:0003853 | Sclerosis with transverse striations in metaphyses of the upper limbs |
| HP:0003855 | Spurred metaphyses of the upper limbs |
| http://purl.obolibrary.org/obo/UBERON_0018531 | female superficial inguinal ring |
| http://purl.obolibrary.org/obo/UBERON_0018532 | female deep inguinal ring |
| http://purl.obolibrary.org/obo/UBERON_0018530 | male inguinal ring |
| http://purl.obolibrary.org/obo/UBERON_0006558 | lymphatic part of lymphoid system |
| http://purl.obolibrary.org/obo/CHEBI_26463 | pyruvate family amino acid |
| HP:0025355 | Retinal arterial macroaneurysms |
| HP:0025356 | Psychomotor retardation |
| HP:0025357 | Erratic myoclonus |
| HP:0025358 | Uveal ectropion |
| HP:0025359 | Polygonal renal calices |
| http://purl.obolibrary.org/obo/GO_0004618 | 1,3-bisphospho-D-glycerate + ADP <=> 3-phospho-D-glycerate + ADP |
| http://purl.obolibrary.org/obo/GO_0016301 | FN3K phosphorylates ketosamines |
| http://purl.obolibrary.org/obo/CHEBI_38443 | 1-benzopyran |
| http://purl.obolibrary.org/obo/GO_0004619 | 2-Phospho-D-glycerate <=> 3-Phospho-D-glycerate |
| http://purl.obolibrary.org/obo/UBERON_0006553 | renal duct |
| HP:0025350 | Giant conjunctival papillae |
| HP:0025351 | Recurrent interdigital mycosis |
| HP:0025352 | Autosomal dominant germline de novo mutation |
| HP:0025353 | Anti-multiple nuclear dots antibody positivity |
| http://purl.obolibrary.org/obo/UBERON_0018542 | mandibular symphyseal region |
| http://purl.obolibrary.org/obo/UBERON_0018543 | lumen of intestine |
| http://purl.obolibrary.org/obo/UBERON_0006568 | hypothalamic nucleus |
| http://purl.obolibrary.org/obo/CHEBI_26455 | pyrroles |
| http://purl.obolibrary.org/obo/CHEBI_26456 | pyrrolidine alkaloid |
| HP:0025343 | Lupus anticoagulant |
| HP:0025344 | Interlobular bile duct destruction |
| HP:0025346 | Increased circulating beta-2-microglobulin level |
| http://purl.obolibrary.org/obo/GO_0004601 | AhpC reduces H2O2 |
| http://purl.obolibrary.org/obo/GO_0016209 | antioxidant activity |
| HP:0025347 | Decreased circulating beta-2-microglobulin level |
| HP:0025345 | Abnormality of circulating beta-2-microglobulin level |
| HP:0025349 | Limbal edema |
| HP:0025348 | Abnormality of the corneal limbus |
| http://purl.obolibrary.org/obo/UBERON_0006567 | right ventricle myocardium |
| http://purl.obolibrary.org/obo/UBERON_0006566 | left ventricle myocardium |
| http://purl.obolibrary.org/obo/UBERON_0006565 | female urethral meatus |
| http://purl.obolibrary.org/obo/UBERON_0012240 | urethral meatus |
| http://purl.obolibrary.org/obo/UBERON_0010418 | urethral opening |
| http://purl.obolibrary.org/obo/UBERON_0006563 | tunica media of pulmonary trunk |
| http://purl.obolibrary.org/obo/UBERON_0007239 | tunica media of artery |
| HP:0025340 | Deep episcleral hyperemia |
| HP:0025341 | Corneal keratic precipitates |
| http://purl.obolibrary.org/obo/UBERON_0006561 | non-lymphatic part of lymphoid system |
| HP:0025342 | Central retinal artery occlusion |
| http://purl.obolibrary.org/obo/UBERON_0018553 | primary central incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018554 | primary lateral incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018552 | lateral incisor tooth |
| http://purl.obolibrary.org/obo/GO_0016616 | RDH11 reduces RBP2:atRAL to RBP2:atROL |
| http://purl.obolibrary.org/obo/GO_0016614 | Fgd1 reactivates F420 |
| http://purl.obolibrary.org/obo/CHEBI_51422 | organodiyl group |
| HP:0025333 | Cortical thinning of foot bones |
| HP:0025332 | Abnormality of foot cortical bone |
| HP:0025334 | Triggered by emotion |
| HP:0025335 | Delayed ability to stand |
| http://purl.obolibrary.org/obo/GO_0004634 | 2-Phospho-D-glycerate <=> Phosphoenolpyruvate + H2O |
| HP:0025336 | Delayed ability to sit |
| HP:0025338 | Circumlimbal hyperemia |
| HP:0025339 | Superficial episcleral hyperemia |
| http://purl.obolibrary.org/obo/UBERON_0006574 | pectinate line |
| http://purl.obolibrary.org/obo/GO_0016620 | MscR reduces nitrosomycothiol to ammonia |
| HP:0025330 | Downgaze palsy |
| HP:0025331 | Upgaze palsy |
| HP:0000511 | Vertical supranuclear gaze palsy |
| http://purl.obolibrary.org/obo/UBERON_0018561 | upper secondary canine tooth |
| http://purl.obolibrary.org/obo/UBERON_0018621 | upper canine tooth |
| http://purl.obolibrary.org/obo/UBERON_0018562 | lower secondary canine tooth |
| http://purl.obolibrary.org/obo/UBERON_0018622 | lower canine tooth |
| http://purl.obolibrary.org/obo/UBERON_0018584 | secondary canine tooth |
| http://purl.obolibrary.org/obo/UBERON_0018568 | lower central secondary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018601 | lower central incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018551 | central incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018623 | lower secondary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018550 | secondary incisor tooth |
| HP:0025329 | Anti-glutamic acid decarboxylase antibody positivity |
| HP:0025321 | Copper accumulation in liver |
| HP:0025322 | Venous occlusion |
| HP:0025324 | Arterial occlusion |
| HP:0025325 | Sparse medial eyebrow |
| HP:0025327 | Decreased renal parenchymal thickness |
| HP:0025328 | Antepartum hemorrhage |
| http://purl.obolibrary.org/obo/UBERON_0006589 | round ligament of uterus |
| http://purl.obolibrary.org/obo/CHEBI_63410 | all-trans-retinyl ester |
| http://purl.obolibrary.org/obo/UBERON_0006585 | vestibular organ |
| http://purl.obolibrary.org/obo/CL_1000681 | kidney cortex interstitial cell |
| HP:0025320 | Leakage of dye on fundus fluorescein angiography |
| http://purl.obolibrary.org/obo/UBERON_0006517 | kidney calyx |
| http://purl.obolibrary.org/obo/UBERON_0006514 | pallidum |
| http://purl.obolibrary.org/obo/CHEBI_51446 | organic divalent group |
| HP:0025398 | Nodular-perilymphatic pattern on pulmonary HRCT |
| HP:0001361 | Nystagmus-induced head nodding |
| HP:0025399 | Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT |
| http://purl.obolibrary.org/obo/GO_0004658 | propionyl-CoA + CO2 + ATP <=> D-methylmalonyl-CoA + ADP + orthophosphate |
| http://purl.obolibrary.org/obo/GO_0016421 | CoA carboxylase activity |
| HP:0001362 | Calvarial skull defect |
| HP:0025390 | Reticular pattern on pulmonary HRCT |
| HP:0025391 | Crazy paving pattern on pulmonary HRCT |
| HP:0025393 | Reticulonodular pattern on pulmonary HRCT |
| HP:0025394 | Cystic pattern on pulmonary HRCT |
| HP:0025395 | Combined cystic and ground-glass pattern on pulmonary HRCT |
| HP:0025396 | Decreased attenuation pattern on pulmonary HRCT |
| HP:0025397 | Mosaic attenuation pattern on pulmonary HRCT |
| http://purl.obolibrary.org/obo/GO_0016623 | oxidoreductase activity, acting on the aldehyde or oxo group of donors, oxygen as acceptor |
| HP:0025387 | Pill-rolling tremor |
| HP:0002322 | Resting tremor |
| HP:0025388 | Thyroid nodule |
| HP:0025380 | Increased serum androstenedione |
| HP:0025381 | Anti-pituitary antibody positivity |
| HP:0025382 | Hypodipsia |
| HP:0025383 | Dorsocervical fat pad |
| http://purl.obolibrary.org/obo/UBERON_0018508 | foramen of nasal bone |
| http://purl.obolibrary.org/obo/CHEBI_63436 | carbohydrate acid derivative |
| HP:0025385 | Diet-resistant subcutaneous adipose tissue below waist |
| HP:0025384 | Diet-resistant subcutaneous adipose tissue |
| HP:0001374 | Congenital hip dislocation |
| HP:0002827 | Hip dislocation |
| HP:0025386 | Bitemporal hollowing |
| http://purl.obolibrary.org/obo/UBERON_0006538 | respiratory system fluid/secretion |
| http://purl.obolibrary.org/obo/UBERON_0006537 | female reproductive gland secretion |
| http://purl.obolibrary.org/obo/UBERON_0006535 | skin secretion |
| HP:0025376 | Hyperglutaminuria |
| HP:0025377 | Triggered by exertion |
| http://purl.obolibrary.org/obo/GO_0090594 | inflammatory response to wounding |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity |
| http://purl.obolibrary.org/obo/GO_0014003 | oligodendrocyte development |
| HP:0025371 | Delayed ossification of the sacrum |
| HP:0025372 | Loud snoring |
| HP:0025267 | Snoring |
| http://purl.obolibrary.org/obo/UBERON_0006530 | seminal fluid |
| http://purl.obolibrary.org/obo/UBERON_0006536 | male reproductive gland secretion |
| http://purl.obolibrary.org/obo/UBERON_0022293 | reproductive gland secretion |
| HP:0025374 | Duplicated odontoid process |
| HP:0001385 | Hip dysplasia |
| HP:0025375 | Orthotopic os odontoideum |
| HP:0001386 | Joint swelling |
| HP:0025367 | Trichoepithelioma |
| HP:0012843 | Hair follicle neoplasm |
| HP:0025369 | Thick growth plates |
| HP:0025368 | Abnormality of growth plate morphology |
| http://purl.obolibrary.org/obo/GO_0002009 | morphogenesis of an epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006544 | kidney vasculature |
| http://purl.obolibrary.org/obo/UBERON_0002201 | vasculature of trunk |
| http://purl.obolibrary.org/obo/CHEBI_38497 | respiratory-chain inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_38496 | electron-transport chain inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76932 | pathway inhibitor |
| HP:0025360 | Polycalycosis |
| http://purl.obolibrary.org/obo/UBERON_0018529 | female inguinal ring |
| HP:0025362 | Renal medullary pyramid hypoplasia |
| HP:0025361 | Abnormality of medullary pyramid morphology |
| HP:0001399 | Hepatic failure |
| HP:0025363 | Endocapillary hypercellularity |
| HP:0025364 | Extracapillary hypercellularity |
| http://purl.obolibrary.org/obo/CHEBI_26421 | pyridines |
| http://purl.obolibrary.org/obo/PR_O14841 | 5-oxoprolinase (human) |
| http://purl.obolibrary.org/obo/CHEBI_26447 | pyrimidinemonocarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_78574 | pyrimidinecarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_26432 | pyrimidine nucleobase |
| HP:0003906 | Broad humeral epiphyseal plate |
| HP:0003846 | Wide epiphyseal plates of the upper limbs |
| HP:0003905 | Abnormality of the humeral epiphyseal plate |
| HP:0003908 | Corner fracture of metaphysis |
| HP:0003902 | Epiphyseal stippling of the humerus |
| HP:0003897 | Irregular ossification of the humeral epiphyses |
| HP:0003901 | Stippled calcification of the humeral epiphyses |
| HP:0003903 | Broad humeral epiphyses |
| HP:0003898 | Large humeral epiphyses |
| HP:0003904 | Wide epiphyses of the upper limbs |
| HP:0003909 | Cortical subperiosteal resorption of humeral metaphyses |
| HP:0003900 | Small humeral epiphyses |
| HP:0003917 | Pointed humeral metaphysis |
| HP:0003916 | Normal-density transverse humeral bands |
| HP:0003852 | Normal density transverse bands in metaphyses of the upper limbs |
| HP:0003919 | Sclerotic humeral metaphysis with longitudinal striations |
| HP:0003912 | Frayed humeral metaphyses |
| HP:0003915 | Lytic defects of the humeral metaphysis |
| HP:0003851 | Lytic defects in metaphyses of the upper limbs |
| HP:0003914 | Irregular ossification of humeral metaphyses |
| HP:0012791 | Abnormal humeral ossification |
| HP:0003911 | Flared humeral metaphysis |
| HP:0003910 | Enlarged humeral metaphyses |
| HP:0003928 | Cortical thickening of humeral diaphysis |
| HP:0003859 | Cortical diaphyseal thickening of the upper limbs |
| HP:0003927 | Cortical irregularity of humeral diaphysis |
| HP:0003867 | Humeral cortical irregularity |
| HP:0010629 | Abnormal morphology of the cortex of the humerus |
| HP:0003858 | Cortical diaphyseal irregularity of the upper limbs |
| HP:0003929 | Ground glass opacity of humeral diaphysis |
| HP:0003924 | Stippled calcification of humeral metaphysis |
| HP:0003923 | Square humeral metaphysis |
| HP:0003922 | Spurred humeral metaphysis |
| HP:0003921 | Laterally sloping humeral metaphysis |
| HP:0003920 | Sloping humeral metaphysis |
| HP:0003939 | Humeroulnar synostosis |
| HP:0100745 | Abnormality of the humeroulnar joint |
| HP:0003935 | Wide humeral diaphysis |
| HP:0003861 | Broad diaphyses of the upper limbs |
| HP:0003934 | Slender humeral diaphysis |
| HP:0003931 | Periosteal new bone of humeral diaphysis |
| HP:0003930 | Lytic defects of humeral diaphysis |
| HP:0003933 | Sclerosis of humeral diaphysis |
| HP:0006440 | Increased density of long bone diaphyses |
| HP:0003860 | Diaphyseal sclerosis of the upper limbs |
| HP:0003932 | Sclerotic foci of humeral diaphysis |
| HP:0003926 | Abnormality of the humeral diaphysis |
| http://purl.obolibrary.org/obo/CHEBI_75325 | cathartic |
| HP:0003989 | Notched ulna |
| HP:0001327 | Photosensitive myoclonic seizure |
| HP:0003980 | Pseudarthrosis of the radius |
| HP:0003986 | Exostoses of the radius |
| HP:0001325 | Hypoglycemic coma |
| HP:0001259 | Coma |
| HP:0003985 | Exostoses of the ulna |
| HP:0001326 | EEG with irregular generalized spike and wave complexes |
| HP:0003988 | Long ulna |
| HP:0003987 | Fractured ulna |
| HP:0003982 | Aplasia of the ulna |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0003981 | Broad radius |
| HP:0003984 | Posteriorly dislocated ulna |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0003991 | Osteosclerosis of the ulna |
| HP:0003990 | Pointed ulna |
| HP:0003997 | Hypoplastic radial head |
| HP:0003996 | Flattened radial head |
| HP:0001334 | Communicating hydrocephalus |
| HP:0003998 | Constricted radial neck |
| HP:0001335 | Bimanual synkinesia |
| HP:0003993 | Broad ulna |
| HP:0003992 | Slender ulna |
| HP:0003994 | Dislocated wrist |
| HP:0001331 | Absent septum pellucidum |
| http://purl.obolibrary.org/obo/PR_P22646 | T-cell surface glycoprotein CD3 epsilon chain (mouse) |
| http://purl.obolibrary.org/obo/CL_1000708 | ureter adventitial cell |
| http://purl.obolibrary.org/obo/CL_1000601 | ureteral cell |
| http://purl.obolibrary.org/obo/CL_0002503 | adventitial cell |
| http://purl.obolibrary.org/obo/CL_0000630 | supportive cell |
| HP:0001340 | Enhancement of the C-reflex |
| HP:0001348 | Brisk reflexes |
| http://purl.obolibrary.org/obo/CHEBI_139590 | primary alpha-hydroxy ketone |
| HP:0001345 | Psychotic mentation |
| HP:0000709 | Psychosis |
| HP:0001343 | Kernicterus |
| HP:0001344 | Absent speech |
| HP:0001341 | Olfactory lobe agenesis |
| HP:0025057 | Abnormality of olfactory lobe morphology |
| http://purl.obolibrary.org/obo/CHEBI_139592 | tertiary alpha-hydroxy ketone |
| http://purl.obolibrary.org/obo/GO_0004590 | orotidine 5'-monophosphate => uridine 5'-monophosphate + CO2 |
| http://purl.obolibrary.org/obo/CHEBI_139588 | alpha-hydroxy ketone |
| http://purl.obolibrary.org/obo/CHEBI_52396 | alpha-oxyketone |
| http://purl.obolibrary.org/obo/CHEBI_52395 | oxyketone |
| HP:0001351 | Jerk-locked premyoclonus spikes |
| http://purl.obolibrary.org/obo/CHEBI_139589 | retinoid anion |
| HP:0003945 | Irregular articular surfaces of the elbow joints |
| HP:0003948 | Irregular epiphyses of the elbow |
| HP:0003947 | Delayed elbow epiphyseal ossification |
| HP:0003840 | Delayed upper limb epiphyseal ossification |
| HP:0002663 | Delayed epiphyseal ossification |
| HP:0025318 | Ovarian carcinoma |
| HP:0025319 | Rubeosis iridis |
| HP:0025310 | Oval pupil |
| HP:0025311 | Anterior chamber cyst |
| HP:0025312 | Esophoria |
| HP:0025313 | Exophoria |
| HP:0025314 | Choroidal nevus |
| HP:0025315 | Exacerbated by head trauma |
| HP:0025317 | Cubitus varus |
| HP:0003942 | Synovial chondromatosis of the elbow |
| HP:0003941 | Stippled calcification of the elbow |
| HP:0003944 | Narrow joint spaces of the elbow |
| HP:0003943 | Abnormality of the joint spaces of the elbow |
| HP:0003940 | Osteoarthritis of the elbow |
| http://purl.obolibrary.org/obo/PR_000006169 | cell surface glycoprotein CD200 receptor 3 |
| HP:0003957 | Cortical thickening of the forearm bones |
| HP:0003958 | Cross-fusion of the forearm bones |
| HP:0025307 | Acute emergence over hours |
| HP:0025308 | Acute emergence over days |
| HP:0025309 | Abnormal pupil shape |
| HP:0025300 | Malar rash |
| HP:0025301 | Nocturnal |
| HP:0025302 | Diurnal |
| HP:0025303 | Episodic |
| HP:0025305 | Quotidian |
| HP:0025304 | Periodic |
| HP:0031796 | Recurrent |
| HP:0025306 | Acute emergence over minutes |
| HP:0003952 | Sclerotic foci of metaphyses of the elbow |
| HP:0003854 | Sclerosis of metaphyses of the upper limbs |
| HP:0003955 | Bone-in-a-bone appearance of forearm |
| HP:0003954 | Angulated forearm bones |
| HP:0003951 | Distal humeral metaphyseal irregularity |
| HP:0003950 | Flared elbow metaphyses |
| HP:0003949 | Abnormality of the elbow metaphyses |
| HP:0003849 | Flared upper limb metaphysis |
| HP:0003856 | Upper limb metaphyseal widening |
| HP:0001308 | Tongue fasciculations |
| HP:0001305 | Dandy-Walker malformation |
| HP:0002350 | Cerebellar cyst |
| HP:0002198 | Dilated fourth ventricle |
| http://purl.obolibrary.org/obo/CL_1000746 | glomerular cell |
| http://purl.obolibrary.org/obo/CL_1000612 | kidney corpuscule cell |
| HP:0003964 | Osteoporotic forearm bones |
| HP:0001304 | Torsion dystonia |
| HP:0003966 | Sclerotic foci in forearm bones |
| HP:0001301 | Chronic sensorineural polyneuropathy |
| HP:0003965 | Pseudarthrosis of the forearm bones |
| HP:0003960 | Exostoses of the forearm bones |
| http://purl.obolibrary.org/obo/UBERON_0006497 | interosseous muscle of pes |
| http://purl.obolibrary.org/obo/UBERON_0014378 | intrinsic muscle of pes |
| HP:0001300 | Parkinsonism |
| HP:0003979 | Lytic defects of the radius |
| HP:0003963 | Lytic defects of the forearm bones |
| HP:0003978 | Fractured radius |
| HP:0003961 | Fractured forearm bones |
| HP:0001319 | Neonatal hypotonia |
| HP:0003977 | Deformed radius |
| HP:0003959 | Deformed forearm bones |
| HP:0001312 | Giant somatosensory evoked potentials |
| HP:0003976 | Constricted radius |
| HP:0003971 | Broad forearm bones |
| HP:0003970 | Undermodelled forearm bones |
| HP:0003973 | Wide radioulnar joints |
| http://purl.obolibrary.org/obo/UBERON_0018411 | ligament of hip joint |
| http://purl.obolibrary.org/obo/UBERON_0018413 | facial nerve canal |
| http://purl.obolibrary.org/obo/CHEBI_26348 | prosthetic group |
| http://purl.obolibrary.org/obo/CHEBI_23357 | cofactor |
| HP:0025475 | Erythematous macule |
| HP:0025476 | Testicular lipomatosis |
| HP:0025477 | Periarticular calcification |
| HP:0025478 | Atrial standstill |
| HP:0025479 | Self-neglect |
| http://purl.obolibrary.org/obo/UBERON_0018415 | ethmoid foramen |
| http://purl.obolibrary.org/obo/UBERON_0006435 | os penis |
| HP:0025470 | Telogen effluvium |
| HP:0025471 | Congenital panfollicular nevus |
| http://purl.obolibrary.org/obo/UBERON_0006431 | xiphoid process bone |
| HP:0025472 | Recurrent plantar mycosis |
| http://purl.obolibrary.org/obo/UBERON_0006430 | xiphoid cartilage |
| http://purl.obolibrary.org/obo/UBERON_0002236 | costal cartilage |
| http://purl.obolibrary.org/obo/UBERON_0000398 | cartilage tissue of sternum |
| HP:0025473 | Hyperpigmented papule |
| HP:0025474 | Erythematous plaque |
| http://purl.obolibrary.org/obo/CHEBI_26338 | prostaglandins E |
| http://purl.obolibrary.org/obo/CHEBI_26333 | prostaglandin |
| http://purl.obolibrary.org/obo/CHEBI_26347 | prostanoid |
| http://purl.obolibrary.org/obo/CHEBI_23899 | icosanoid |
| HP:0025464 | Increased reactive oxygen species production |
| HP:0025466 | Beta 2-microglobulinuria |
| HP:0025469 | Anagen effluvium |
| HP:0025460 | High myoinositol in brain by MRS |
| http://purl.obolibrary.org/obo/CHEBI_38316 | pyrimidinecarboxylate anion |
| http://purl.obolibrary.org/obo/UBERON_0006440 | os clitoris |
| http://purl.obolibrary.org/obo/UBERON_0007719 | bone of reproductive organ |
| HP:0025453 | Delayed adrenarche |
| HP:0025455 | Decreased CSF 5-hydroxyindolacetic acid |
| HP:0025457 | Decreased CSF protein |
| HP:0025458 | Decreased CSF albumin concentration |
| HP:0025459 | Increased CSF/serum albumin ratio |
| http://purl.obolibrary.org/obo/CHEBI_26361 | protoporphyrins |
| http://purl.obolibrary.org/obo/CHEBI_26214 | porphyrins |
| HP:0025451 | Testicular adrenal rest tumor |
| HP:0025452 | Pyoderma gangrenosum |
| HP:0200042 | Skin ulcer |
| HP:0025444 | Reduced amygdala volume |
| HP:0025446 | Anomalous insertion of papillary muscle directly into anterior mitral leaflet |
| HP:0025448 | Anterior displacement of the papillary muscles |
| http://purl.obolibrary.org/obo/GO_0004505 | Defective PAH does not hydroxylate L-Phe to L-Tyr |
| HP:0025449 | Apically displaced anterolateral papillary muscle |
| HP:0025447 | Displacement of the papillary muscles |
| HP:0025445 | Morphological abnormality of the papillary muscles |
| HP:0025440 | Warm reactive autoantibody positivity |
| HP:0025441 | Achilles tendon calcification |
| HP:0001483 | Eye poking |
| HP:0001489 | Posterior vitreous detachment |
| HP:0001493 | Falciform retinal fold |
| HP:0001491 | Congenital fibrosis of extraocular muscles |
| HP:0001492 | Axenfeld anomaly |
| HP:0001498 | Carpal bone hypoplasia |
| HP:0001495 | Carpal osteolysis |
| http://purl.obolibrary.org/obo/PR_000008730 | 4-hydroxyphenylpyruvate dioxygenase |
| http://purl.obolibrary.org/obo/GO_0004565 | Beta-galactosidase can also hydrolyse globosides to form cerebrosides |
| http://purl.obolibrary.org/obo/GO_0015925 | galactosidase activity |
| HP:0025497 | Coronary artery spasm |
| HP:0025498 | Aceruloplasminemia |
| HP:0025499 | Class I obesity |
| http://purl.obolibrary.org/obo/GO_0004556 | Digestion of branched starch (amylopectin) by extracellular amylase |
| http://purl.obolibrary.org/obo/GO_0016160 | amylase activity |
| HP:0025490 | Myocardial bridging |
| HP:0025491 | Venous stenosis |
| HP:0025492 | Microcoria |
| HP:0025493 | Palmoplantar erythema |
| HP:0025494 | Coated aorta |
| HP:0025495 | Descending aorta hypoplasia |
| HP:0031934 | Abnormal descending aorta morphology |
| HP:0025496 | Abnormal coronary artery physiology |
| HP:0025486 | Fused labia majora |
| HP:0025488 | Detrusor sphincter dyssynergia |
| HP:0025489 | Bladder duplication |
| http://purl.obolibrary.org/obo/UBERON_0018405 | inferior alveolar nerve |
| http://purl.obolibrary.org/obo/UBERON_0018406 | mental nerve |
| HP:0025480 | Lipomyelomeningocele |
| HP:0025481 | Cervical hemivertebrae |
| HP:0002937 | Hemivertebrae |
| http://purl.obolibrary.org/obo/UBERON_0018408 | infra-orbital nerve |
| http://purl.obolibrary.org/obo/UBERON_0022298 | lower eyelid nerve |
| HP:0025482 | Positive perchlorate discharge test |
| HP:0025484 | Increased circulating thyroglobulin level |
| HP:0025483 | Abnormal circulating thyroglobulin level |
| HP:0025485 | Vaginal adenosis |
| http://purl.obolibrary.org/obo/CHEBI_77974 | food packaging gas |
| http://purl.obolibrary.org/obo/CHEBI_16958 | beta-alanine |
| http://purl.obolibrary.org/obo/CHEBI_33706 | beta-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_77969 | food humectant |
| http://purl.obolibrary.org/obo/CHEBI_77968 | humectant |
| http://purl.obolibrary.org/obo/CHEBI_28940 | calciol |
| http://purl.obolibrary.org/obo/CHEBI_28938 | ammonium |
| http://purl.obolibrary.org/obo/CHEBI_60242 | monovalent inorganic cation |
| http://purl.obolibrary.org/obo/CHEBI_50313 | onium cation |
| http://purl.obolibrary.org/obo/CHEBI_50312 | onium compound |
| http://purl.obolibrary.org/obo/CHEBI_77941 | EC 3.5.1.4 (amidase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_16947 | citrate(3-) |
| http://purl.obolibrary.org/obo/CHEBI_27092 | tricarboxylic acid trianion |
| http://purl.obolibrary.org/obo/CHEBI_16990 | bilirubin IXalpha |
| http://purl.obolibrary.org/obo/CHEBI_16995 | oxalic acid |
| http://purl.obolibrary.org/obo/CHEBI_16997 | propane-1,2-diol |
| http://purl.obolibrary.org/obo/CHEBI_26284 | propane-1,2-diols |
| http://purl.obolibrary.org/obo/CHEBI_26288 | propanediol |
| http://purl.obolibrary.org/obo/CHEBI_13643 | glycol |
| http://purl.obolibrary.org/obo/CHEBI_23824 | diol |
| http://purl.obolibrary.org/obo/BFO_0000006 | spatial region |
| http://purl.obolibrary.org/obo/CHEBI_28976 | carbonic acid |
| http://purl.obolibrary.org/obo/CHEBI_14321 | glutamate(1-) |
| http://purl.obolibrary.org/obo/CHEBI_41941 | (3,4-dihydroxyphenyl)acetic acid |
| http://purl.obolibrary.org/obo/PR_O14638 | PR:O14638 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/BFO_0000031 | generically dependent continuant |
| http://purl.obolibrary.org/obo/BFO_0000034 | function |
| http://purl.obolibrary.org/obo/BFO_0000016 | disposition |
| http://purl.obolibrary.org/obo/BFO_0000023 | role |
| http://purl.obolibrary.org/obo/BFO_0000017 | realizable entity |
| http://purl.obolibrary.org/obo/CL_1000803 | kidney inner medulla interstitial cell |
| http://purl.obolibrary.org/obo/CL_1000617 | kidney inner medulla cell |
| http://purl.obolibrary.org/obo/CL_1000682 | kidney medulla interstitial cell |
| http://purl.obolibrary.org/obo/CL_1000500 | kidney interstitial cell |
| http://purl.obolibrary.org/obo/CHEBI_16919 | creatine |
| http://purl.obolibrary.org/obo/CHEBI_16924 | 5-oxo-D-proline |
| http://purl.obolibrary.org/obo/CHEBI_89843 | methylsuccinic acid |
| HP:0001449 | Duplication of metatarsal bones |
| HP:0001444 | Autosomal dominant somatic cell mutation |
| HP:0001445 | Abnormality of the hip-girdle musculature |
| HP:0001442 | Somatic mosaicism |
| HP:0001443 | Abnormality of the gluteal musculature |
| HP:0001440 | Metatarsal synostosis |
| HP:0001450 | Y-linked inheritance |
| HP:0001452 | Autosomal dominant contiguous gene syndrome |
| http://purl.obolibrary.org/obo/PR_P09564 | T-cell antigen CD7 (human) |
| HP:0001466 | Contiguous gene syndrome |
| HP:0001465 | Amyotrophy involving the shoulder musculature |
| http://purl.obolibrary.org/obo/CHEBI_63248 | oxidising agent |
| http://purl.obolibrary.org/obo/GO_0016447 | somatic recombination of immunoglobulin gene segments |
| http://purl.obolibrary.org/obo/GO_0016445 | somatic diversification of immunoglobulins |
| HP:0001477 | Compensatory chin elevation |
| HP:0031705 | Compensatory head posture |
| HP:0001475 | Male-limited autosomal dominant |
| HP:0001470 | Sex-limited autosomal dominant |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001476 | Delayed closure of the anterior fontanelle |
| HP:0000270 | Delayed cranial suture closure |
| HP:0001473 | Metatarsal osteolysis |
| HP:0001474 | Sclerotic scapulae |
| HP:0001408 | Bile duct proliferation |
| HP:0001409 | Portal hypertension |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0031865 | Abnormal liver physiology |
| HP:0001396 | Cholestasis |
| HP:0001407 | Hepatic cysts |
| HP:0006706 | Cystic liver disease |
| HP:0001404 | Hepatocellular necrosis |
| HP:0002605 | Hepatic necrosis |
| HP:0001405 | Periportal fibrosis |
| HP:0001395 | Hepatic fibrosis |
| HP:0025431 | Staccato cry |
| HP:0025432 | Acanthoma |
| HP:0025433 | Decreased lecithin cholesterol acyl transferase level |
| HP:0025434 | Reduced hemolytic complement activity |
| HP:0025435 | Increased lactate dehydrogenase level |
| HP:0025436 | Elevated serum 11-deoxycortisol |
| HP:0025437 | Macrocephalic sperm head |
| HP:0001402 | Hepatocellular carcinoma |
| HP:0002896 | Neoplasm of the liver |
| HP:0001403 | Macrovesicular hepatic steatosis |
| http://purl.obolibrary.org/obo/UBERON_0006356 | epigastric vein |
| HP:0001401 | Intrahepatic biliary dysgenesis |
| http://purl.obolibrary.org/obo/UBERON_0006355 | superior vesical vein |
| http://purl.obolibrary.org/obo/UBERON_0002460 | vesical vein |
| HP:0025430 | High-pitched cry |
| http://purl.obolibrary.org/obo/CL_1000892 | kidney capillary endothelial cell |
| http://purl.obolibrary.org/obo/CL_0000071 | blood vessel endothelial cell |
| http://purl.obolibrary.org/obo/CL_0002139 | endothelial cell of vascular tree |
| http://purl.obolibrary.org/obo/CL_0000115 | endothelial cell |
| http://purl.obolibrary.org/obo/CL_1000891 | kidney arterial blood vessel cell |
| HP:0001419 | X-linked recessive inheritance |
| http://purl.obolibrary.org/obo/GO_0016469 | proton-transporting two-sector ATPase complex |
| http://purl.obolibrary.org/obo/CL_1000893 | kidney venous blood vessel cell |
| http://purl.obolibrary.org/obo/CL_1000854 | kidney blood vessel cell |
| http://purl.obolibrary.org/obo/CL_1000504 | kidney medulla cell |
| http://purl.obolibrary.org/obo/CL_0002584 | renal cortical epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002681 | kidney cortical cell |
| HP:0025428 | Bronchospasm |
| http://purl.obolibrary.org/obo/GO_0004494 | Defective MUT does not isomerise L-MM-CoA to SUCC-CoA |
| HP:0025420 | Diffuse alveolar hemorrhage |
| HP:0025421 | Pneumomediastinum |
| HP:0025422 | Pleural cyst |
| HP:0025425 | Laryngospasm |
| HP:0025424 | Abnormal larynx physiology |
| HP:0025427 | Abnormal bronchus physiology |
| HP:0001413 | Micronodular cirrhosis |
| HP:0001414 | Microvesicular hepatic steatosis |
| HP:0001397 | Hepatic steatosis |
| HP:0006561 | Lipid accumulation in hepatocytes |
| HP:0031137 | Storage in hepatocytes |
| HP:0001412 | Enteroviral hepatitis |
| HP:0006562 | Viral hepatitis |
| HP:0001410 | Decreased liver function |
| HP:0025155 | Abnormality of hepatobiliary system physiology |
| HP:0001428 | Somatic mutation |
| HP:0001427 | Mitochondrial inheritance |
| HP:0025417 | Patulous urethra |
| HP:0025418 | Renal cortical necrosis |
| HP:0025419 | Pulmonary pneumatocele |
| HP:0025410 | Splenogonadal fusion |
| HP:0025413 | Fossa navicularis urethral stricture |
| HP:0025414 | Pendulous urethral stricture |
| HP:0025415 | Bulbar urethral stricture |
| HP:0012227 | Urethral stricture |
| HP:0008661 | Urethral stenosis |
| HP:0025416 | Vaginal stricture |
| HP:0001425 | Heterogeneous |
| HP:0001423 | X-linked dominant inheritance |
| HP:0001417 | X-linked inheritance |
| HP:0025406 | Asthenia |
| HP:0025407 | Rectourethral fistula |
| HP:0100590 | Rectal fistula |
| HP:0010480 | Urethral fistula |
| HP:0025400 | Nodular-random pattern on pulmonary HRCT |
| HP:0025401 | Staring gaze |
| HP:0025402 | Square-wave jerks |
| HP:0025403 | Stooped posture |
| HP:0025405 | Visual fixation instability |
| HP:0001433 | Hepatosplenomegaly |
| HP:0002240 | Hepatomegaly |
| HP:0025597 | Inferior oblique muscle restriction |
| HP:0025598 | Inferior oblique muscle weakness |
| HP:0025599 | Inferior oblique muscle overaction |
| HP:0025596 | Abnormal inferior oblique muscle physiology |
| http://purl.obolibrary.org/obo/GO_0004854 | xanthine dehydrogenase activity |
| HP:0025593 | Superior oblique muscle restriction |
| HP:0025594 | Superior oblique muscle overaction |
| HP:0025595 | Superior oblique muscle underaction |
| HP:0025592 | Superior oblique muscle weakness |
| HP:0025591 | Abnormal superior oblique muscle physiology |
| HP:0031739 | Abnormal oblique muscle physiology |
| http://purl.obolibrary.org/obo/UBERON_0018302 | upper molar 1 |
| http://purl.obolibrary.org/obo/UBERON_0018376 | molar tooth 1 |
| http://purl.obolibrary.org/obo/UBERON_0018303 | adrenal tissue |
| http://purl.obolibrary.org/obo/UBERON_0008989 | submocosal esophageal gland |
| HP:0025589 | Cyclodeviation |
| http://purl.obolibrary.org/obo/UBERON_0008987 | renal parenchyma |
| http://purl.obolibrary.org/obo/UBERON_0006322 | inferior rectus extraocular muscle |
| http://purl.obolibrary.org/obo/GO_0016831 | 2-amino-3-carboxymuconate semialdehyde => 2-aminomuconate semialdehyde + CO2 |
| HP:0025581 | Foveal hemorrhage |
| http://purl.obolibrary.org/obo/UBERON_0006321 | superior oblique extraocular muscle |
| http://purl.obolibrary.org/obo/GO_0016830 | 2-hydroxyphytanoyl-CoA => pristanal + formyl-CoA |
| HP:0025582 | Submacular hemorrhage |
| HP:0025243 | Subretinal hemorrhage |
| http://purl.obolibrary.org/obo/UBERON_0006320 | inferior oblique extraocular muscle |
| http://purl.obolibrary.org/obo/UBERON_0006532 | oblique extraocular muscle |
| HP:0025583 | Tapetal-like fundal reflex |
| http://purl.obolibrary.org/obo/GO_0016857 | FUOM isomerises alpha-Fuc to beta-Fuc |
| http://purl.obolibrary.org/obo/GO_0016854 | racemase and epimerase activity |
| http://purl.obolibrary.org/obo/UBERON_0006339 | third ventricle choroid plexus stroma |
| http://purl.obolibrary.org/obo/UBERON_0006338 | lateral ventricle choroid plexus stroma |
| HP:0025574 | Macular hemorrhage |
| HP:0000573 | Retinal hemorrhage |
| HP:0031803 | Fundus hemorrhage |
| HP:0025578 | Aortic valve prolapse |
| http://purl.obolibrary.org/obo/UBERON_0008998 | vasculature of brain |
| http://purl.obolibrary.org/obo/UBERON_0008995 | nucleus of cerebellar nuclear complex |
| http://purl.obolibrary.org/obo/UBERON_0006333 | snout |
| http://purl.obolibrary.org/obo/CHEBI_36044 | antiviral drug |
| http://purl.obolibrary.org/obo/CHEBI_36043 | antimicrobial drug |
| http://purl.obolibrary.org/obo/CHEBI_35441 | antiinfective agent |
| HP:0025570 | Choroidal vascular hyperpermeability |
| HP:0025571 | Christmas tree cataract |
| HP:0025572 | Punctal stenosis |
| http://purl.obolibrary.org/obo/GO_0016861 | intramolecular oxidoreductase activity, interconverting aldoses and ketoses |
| http://purl.obolibrary.org/obo/GO_0016860 | Isomerization of 3-trans-decenoyl-CoA to form trans-dec-2-enoyl-CoA |
| http://purl.obolibrary.org/obo/SO_0000418 | signal_peptide |
| HP:0025573 | Mild myopia |
| http://purl.obolibrary.org/obo/UBERON_0018321 | foramen for glossopharyngeal nerve |
| http://purl.obolibrary.org/obo/UBERON_0006349 | epigastric artery |
| http://purl.obolibrary.org/obo/UBERON_0018326 | ilioischiadic foramen |
| HP:0025563 | Anterior chamber cells grade 0 |
| HP:0025564 | Anterior chamber cells grade 2+ |
| HP:0025565 | Anterior chamber cells grade 3+ |
| HP:0025566 | Anterior chamber cells grade 4+ |
| HP:0025567 | Central serous chorioretinopathy |
| HP:0025569 | Polypoidal choroidal vasculopathy |
| HP:0025561 | Anterior chamber cells grade 1+ |
| HP:0025562 | Anterior chamber cells grade 0.5+ |
| HP:0025560 | Anterior chamber cells |
| http://purl.obolibrary.org/obo/UBERON_0006340 | fourth ventricle choroid plexus stroma |
| http://purl.obolibrary.org/obo/UBERON_0005206 | choroid plexus stroma |
| http://purl.obolibrary.org/obo/CHEBI_36063 | oxytocic |
| http://purl.obolibrary.org/obo/GO_1904099 | negative regulation of protein O-linked glycosylation |
| http://purl.obolibrary.org/obo/GO_0060051 | negative regulation of protein glycosylation |
| http://purl.obolibrary.org/obo/GO_0031400 | negative regulation of protein modification process |
| http://purl.obolibrary.org/obo/CHEBI_51689 | enone |
| http://purl.obolibrary.org/obo/GO_0002244 | hematopoietic progenitor cell differentiation |
| http://purl.obolibrary.org/obo/CHEBI_51688 | enal |
| http://purl.obolibrary.org/obo/GO_0016868 | intramolecular transferase activity, phosphotransferases |
| http://purl.obolibrary.org/obo/GO_0016866 | intramolecular transferase activity |
| http://purl.obolibrary.org/obo/GO_0016853 | TSTA3 dimer epimerises GDP-DHDMan to GDP-KDGal |
| http://purl.obolibrary.org/obo/UBERON_0008946 | lung parenchyma |
| http://purl.obolibrary.org/obo/UBERON_0008947 | respiratory primordium |
| http://purl.obolibrary.org/obo/GO_0002233 | leukocyte chemotaxis involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002232 | leukocyte chemotaxis involved in inflammatory response |
| http://purl.obolibrary.org/obo/PR_000018420 | endoglin, signal peptide removed form |
| http://purl.obolibrary.org/obo/GO_0002228 | natural killer cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0045087 | innate immune response |
| http://purl.obolibrary.org/obo/GO_1904068 | G protein-coupled receptor signaling pathway involved in social behavior |
| http://purl.obolibrary.org/obo/UBERON_0008969 | dental follicle |
| http://purl.obolibrary.org/obo/UBERON_0006306 | ulna cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0006304 | future trigeminal ganglion |
| http://purl.obolibrary.org/obo/GO_0002253 | activation of immune response |
| http://purl.obolibrary.org/obo/GO_0002246 | wound healing involved in inflammatory response |
| http://purl.obolibrary.org/obo/PR_000018405 | carcinoembryonic antigen-related cell adhesion molecule 8, signal peptide removed form |
| http://purl.obolibrary.org/obo/UBERON_0008909 | perichordal bone |
| http://purl.obolibrary.org/obo/UBERON_0012075 | replacement bone |
| http://purl.obolibrary.org/obo/UBERON_0010522 | replacement element |
| http://purl.obolibrary.org/obo/CHEBI_26649 | serine derivative |
| http://purl.obolibrary.org/obo/CHEBI_26667 | sialic acid |
| http://purl.obolibrary.org/obo/CHEBI_25508 | neuraminic acids |
| http://purl.obolibrary.org/obo/CHEBI_63394 | ketoaldonic acid derivative |
| http://purl.obolibrary.org/obo/CHEBI_63367 | monosaccharide derivative |
| http://purl.obolibrary.org/obo/CHEBI_28963 | amino sugar |
| http://purl.obolibrary.org/obo/CHEBI_26650 | serine family amino acid |
| http://purl.obolibrary.org/obo/CHEBI_38631 | aminoalkylindole |
| http://purl.obolibrary.org/obo/PR_Q07763 | natural killer cell receptor 2B4 (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_24020 | fat-soluble vitamin |
| HP:0001504 | Metacarpal osteolysis |
| http://purl.obolibrary.org/obo/GO_0051101 | regulation of DNA binding |
| HP:0001501 | 6 metacarpals |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6081 | INS (human) |
| HP:0001518 | Small for gestational age |
| HP:0001519 | Disproportionate tall stature |
| http://purl.obolibrary.org/obo/UBERON_0018299 | mandibular symphyseal tooth |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6024 | IL7R (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6017 | IL5RA (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6012 | IL3RA (human) |
| http://purl.obolibrary.org/obo/UBERON_0018254 | skeletal musculature |
| http://purl.obolibrary.org/obo/UBERON_0018255 | jejunal artery |
| http://purl.obolibrary.org/obo/UBERON_0018256 | lacrimal vein |
| HP:0025516 | Coronary-pulmonary artery fistula |
| HP:0025517 | Hypoplastic hippocampus |
| HP:0025518 | Visual gaze preference |
| HP:0025519 | Multiple biliary hamartomas |
| http://purl.obolibrary.org/obo/UBERON_0018251 | meningeal vein |
| http://purl.obolibrary.org/obo/UBERON_0006273 | otic pit |
| HP:0025510 | Nevus spilus |
| http://purl.obolibrary.org/obo/UBERON_0006271 | orbital fissure |
| HP:0025511 | Nevus sebaceus |
| HP:0025512 | Skin-colored papule |
| HP:0025513 | Scleral rupture |
| HP:0025514 | Morning glory anomaly |
| HP:0025515 | Delayed thelarche |
| HP:0000823 | Delayed puberty |
| http://purl.obolibrary.org/obo/UBERON_0006279 | pleuroperitoneal canal |
| HP:0001566 | Widely-spaced maxillary central incisors |
| HP:0006304 | Widely-spaced incisors |
| HP:0000699 | Diastema |
| HP:0001563 | Fetal polyuria |
| HP:0001561 | Polyhydramnios |
| http://purl.obolibrary.org/obo/UBERON_0006274 | tetrapod parietal bone primordium |
| HP:0001562 | Oligohydramnios |
| HP:0001560 | Abnormality of the amniotic fluid |
| http://purl.obolibrary.org/obo/UBERON_0018265 | anterior root of zygomatic arch |
| HP:0025505 | Anomalous origin of the circumflex artery from the right sinus of Valsalva |
| HP:0025506 | Coronary artery sandwich anomaly |
| HP:0025507 | Yellow papule |
| HP:0025508 | Gottron's papules |
| HP:0025509 | Piezogenic pedal papules |
| http://purl.obolibrary.org/obo/UBERON_0006284 | early prosencephalic vesicle |
| HP:0001571 | Multiple impacted teeth |
| http://purl.obolibrary.org/obo/UBERON_0006283 | future cardiac ventricle |
| HP:0025500 | Class II obesity |
| HP:0025501 | Class III obesity |
| HP:0025502 | Overweight |
| HP:0025503 | Anomalous coronary artery arising from the opposite sinus |
| HP:0001579 | Primary hypercortisolism |
| http://purl.obolibrary.org/obo/UBERON_0006289 | rib pre-cartilage condensation |
| http://purl.obolibrary.org/obo/GO_0016791 | Unknown pPPP phosphatase dephosphorylates pPPP to pPNOL |
| http://purl.obolibrary.org/obo/GO_0042578 | phosphoric ester hydrolase activity |
| http://purl.obolibrary.org/obo/GO_0016788 | Butyrylcholinesterase hydrolyzes acyl Ghrelin |
| http://purl.obolibrary.org/obo/UBERON_0006288 | rib cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0006287 | radius-ulna pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015002 | radius-ulna endochondral element |
| HP:0001575 | Mood changes |
| http://purl.obolibrary.org/obo/UBERON_0006286 | radius cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0006285 | pubic pre-cartilage condensation |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6008 | IL2RA (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6009 | IL2RB (human) |
| http://purl.obolibrary.org/obo/GO_0002187 | mitochondrial creatine kinase complex |
| http://purl.obolibrary.org/obo/GO_0098798 | mitochondrial protein complex |
| http://purl.obolibrary.org/obo/GO_0002185 | creatine kinase complex |
| http://purl.obolibrary.org/obo/UBERON_0006295 | sternebral bone pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0006294 | stapes pre-cartilage condensation |
| http://purl.obolibrary.org/obo/PR_000018333 | CD2 molecule, signal peptide removed form |
| http://purl.obolibrary.org/obo/UBERON_0006293 | spleen primordium |
| HP:0001580 | Pigmented micronodular adrenocortical disease |
| http://purl.obolibrary.org/obo/PR_000018335 | T-cell surface glycoprotein CD8 alpha chain, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001084 | T-cell surface glycoprotein CD8 alpha chain |
| http://purl.obolibrary.org/obo/UBERON_0006292 | shoulder joint primordium |
| http://purl.obolibrary.org/obo/UBERON_0006291 | scapula pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0006290 | scapula cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0015057 | scapula endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0006298 | submandibular gland primordium |
| http://purl.obolibrary.org/obo/PR_000018337 | T-cell surface glycoprotein CD8 beta chain, signal peptide removed form |
| HP:0001586 | Vesicovaginal fistula |
| HP:0004320 | Vaginal fistula |
| HP:0004321 | Bladder fistula |
| http://purl.obolibrary.org/obo/UBERON_0006297 | sublingual gland primordium |
| http://purl.obolibrary.org/obo/UBERON_0017651 | salivary gland primordium |
| HP:0001583 | Rotary nystagmus |
| HP:0001593 | Maxillary lateral incisor microdontia |
| HP:0000691 | Microdontia |
| HP:0001591 | Bell-shaped thorax |
| http://purl.obolibrary.org/obo/PR_000018321 | CD3 epsilon, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001020 | CD3 epsilon |
| http://purl.obolibrary.org/obo/PR_000001018 | CD3 subunit with immunoglobulin domain |
| HP:0001598 | Concave nail |
| HP:0001528 | Hemihypertrophy |
| HP:0100555 | Asymmetric growth |
| HP:0001525 | Severe failure to thrive |
| http://purl.obolibrary.org/obo/UBERON_0006239 | future central tendon |
| http://purl.obolibrary.org/obo/UBERON_0006238 | future brain |
| http://purl.obolibrary.org/obo/GO_1904018 | positive regulation of vasculature development |
| HP:0025552 | Periorbital purpura |
| HP:0025553 | Periorbital ecchymosis with tarsal plate sparing |
| HP:0025554 | Yellow nodule |
| HP:0025555 | Periungual teleangiectasia |
| HP:0025558 | Lamellar cataract with riders |
| HP:0025559 | Coronary cataract |
| http://purl.obolibrary.org/obo/UBERON_0006236 | tetrapod frontal bone primordium |
| http://purl.obolibrary.org/obo/UBERON_0008896 | post-hyoid pharyngeal arch |
| http://purl.obolibrary.org/obo/UBERON_0006235 | foregut-midgut junction |
| HP:0001522 | Death in infancy |
| http://purl.obolibrary.org/obo/UBERON_0006234 | femur pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015052 | femur endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0005254 | upper leg mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0006233 | female genital tubercle |
| http://purl.obolibrary.org/obo/UBERON_0006232 | facio-acoustic VII-VIII preganglion complex |
| http://purl.obolibrary.org/obo/UBERON_0008895 | splanchnocranium |
| HP:0001520 | Large for gestational age |
| HP:0025550 | Elevated circulating ribitol concentration |
| HP:0025551 | Optic nerve misrouting |
| http://purl.obolibrary.org/obo/UBERON_0006230 | extrinsic ocular pre-muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0006904 | head mesenchyme from mesoderm |
| http://purl.obolibrary.org/obo/GO_1904000 | positive regulation of eating behavior |
| HP:0001538 | Protuberant abdomen |
| HP:0001539 | Omphalocele |
| http://purl.obolibrary.org/obo/UBERON_0018226 | pulmonary part of lymphatic system |
| http://purl.obolibrary.org/obo/UBERON_0018227 | pulmonary lymphatic vessel |
| HP:0001537 | Umbilical hernia |
| HP:0004299 | Hernia of the abdominal wall |
| http://purl.obolibrary.org/obo/PR_000018380 | CD48 molecule, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000018389 | L-selectin, signal peptide removed form |
| http://purl.obolibrary.org/obo/UBERON_0006240 | future forebrain |
| HP:0025547 | Decreased mean corpuscular hemoglobin concentration |
| HP:0025548 | Increased mean corpuscular hemoglobin concentration |
| HP:0025546 | Abnormal mean corpuscular hemoglobin concentration |
| http://purl.obolibrary.org/obo/UBERON_0006248 | incus pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0006247 | iliac pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0018229 | renin-angiotensin system |
| http://purl.obolibrary.org/obo/UBERON_0006246 | humerus pre-cartilage condensation |
| HP:0001533 | Slender build |
| http://purl.obolibrary.org/obo/UBERON_0006245 | humerus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0005258 | upper arm mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0015053 | humerus endochondral element |
| HP:0001530 | Mild postnatal growth retardation |
| HP:0008897 | Postnatal growth retardation |
| http://purl.obolibrary.org/obo/UBERON_0006244 | hip joint primordium |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001508 | Failure to thrive |
| http://purl.obolibrary.org/obo/UBERON_0006242 | gall bladder primordium |
| http://purl.obolibrary.org/obo/UBERON_0006241 | future spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0018232 | axillary sweat gland |
| http://purl.obolibrary.org/obo/UBERON_0018234 | stroma of pancreas |
| http://purl.obolibrary.org/obo/UBERON_0018235 | capsule of pancreas |
| HP:0001548 | Overgrowth |
| HP:0025538 | Palmar edema |
| http://purl.obolibrary.org/obo/GO_0051146 | striated muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0042692 | muscle cell differentiation |
| HP:0025530 | Xanthomas of the palmar creases |
| HP:0025531 | Harlequin phenomenon |
| HP:0025532 | Positive pathergy test |
| HP:0025533 | Peau d'orange |
| HP:0025534 | Ocular melanocytosis |
| HP:0025535 | Shawl sign |
| HP:0025536 | V-sign |
| HP:0025537 | Plantar edema |
| http://purl.obolibrary.org/obo/UBERON_0018239 | rhombomere boundary |
| HP:0001545 | Anteriorly placed anus |
| HP:0004397 | Ectopic anus |
| HP:0001543 | Gastroschisis |
| HP:0001544 | Prominent umbilicus |
| http://purl.obolibrary.org/obo/UBERON_0006256 | knee joint primordium |
| http://purl.obolibrary.org/obo/UBERON_0006255 | ischial pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0005256 | trunk mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0006254 | ischial cartilage element |
| HP:0001540 | Diastasis recti |
| http://purl.obolibrary.org/obo/UBERON_0018246 | thyroid vein |
| http://purl.obolibrary.org/obo/UBERON_0018247 | cervical thymic artery |
| http://purl.obolibrary.org/obo/UBERON_0018243 | thymic artery |
| HP:0025527 | Serpiginous cutaneous lesion |
| HP:0025528 | Annular cutaneous lesion |
| HP:0025529 | Hyperpigmented nodule |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8619 | PAX5 (human) |
| http://purl.obolibrary.org/obo/UBERON_0006262 | malleus pre-cartilage condensation |
| HP:0025520 | Calcinosis cutis |
| http://purl.obolibrary.org/obo/UBERON_0006261 | male genital tubercle |
| HP:0025521 | Increased body fat percentage |
| http://purl.obolibrary.org/obo/UBERON_0006260 | lingual swellings |
| HP:0025522 | Elongated chordae tendinae of the mitral valve |
| HP:0025524 | Palmoplantar scaling skin |
| HP:0025525 | Scaling skin on fingertip |
| HP:0025526 | Psoriasiform lesion |
| http://purl.obolibrary.org/obo/UBERON_0006268 | notochordal process |
| http://purl.obolibrary.org/obo/UBERON_0006267 | notochordal plate |
| HP:0001555 | Asymmetry of the thorax |
| HP:0001552 | Barrel-shaped chest |
| http://purl.obolibrary.org/obo/UBERON_0006266 | nasolacrimal groove |
| http://purl.obolibrary.org/obo/UBERON_0006264 | mouth-foregut junction |
| http://purl.obolibrary.org/obo/UBERON_0006263 | Meckel's cartilage pre-cartilage condensation |
| http://purl.obolibrary.org/obo/GO_0016714 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen |
| http://purl.obolibrary.org/obo/GO_0004497 | Acetaminophen oxidised to N-acetylbenzoquinoneimine (NAPQI) |
| HP:0011087 | Talon cusp |
| HP:0011088 | Dens in dente |
| http://purl.obolibrary.org/obo/UBERON_0008858 | pyloric canal |
| http://purl.obolibrary.org/obo/CHEBI_38560 | simple protein |
| http://purl.obolibrary.org/obo/UBERON_0008856 | stomach muscularis externa |
| http://purl.obolibrary.org/obo/UBERON_0034933 | layer of smooth muscle tissue |
| HP:0011081 | Incisor macrodontia |
| HP:0011082 | Conical primary incisor |
| HP:0011083 | Conical maxillary incisor |
| HP:0011084 | Hypocalcification of dental enamel |
| HP:0011085 | Hypomature dental enamel |
| HP:0006285 | Hypomineralization of enamel |
| HP:0011086 | Dentinogenesis imperfecta of primary and permanent teeth |
| http://purl.obolibrary.org/obo/GO_0004736 | Pyruvate + CO2 + ATP => ADP + Orthophosphate + Oxaloacetate |
| http://purl.obolibrary.org/obo/GO_0016885 | ligase activity, forming carbon-carbon bonds |
| http://purl.obolibrary.org/obo/GO_0016874 | ligase activity |
| http://purl.obolibrary.org/obo/UBERON_0008854 | root of molar tooth |
| HP:0011098 | Speech apraxia |
| http://purl.obolibrary.org/obo/GO_0016702 | ALOX12 oxidises LTA4 to LXA4/B4 |
| HP:0011099 | Spastic hemiparesis |
| http://purl.obolibrary.org/obo/GO_0016701 | oxidoreductase activity, acting on single donors with incorporation of molecular oxygen |
| http://purl.obolibrary.org/obo/UBERON_0006208 | auditory hillocks |
| http://purl.obolibrary.org/obo/UBERON_0006207 | aortico-pulmonary spiral septum |
| http://purl.obolibrary.org/obo/UBERON_0004142 | outflow tract septum |
| http://purl.obolibrary.org/obo/GO_0016705 | oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen |
| http://purl.obolibrary.org/obo/UBERON_0008867 | trabecular network of bone |
| http://purl.obolibrary.org/obo/UBERON_0006206 | iridocorneal angle |
| HP:0011090 | Fused teeth |
| HP:0011091 | Gemination |
| HP:0011089 | Double tooth |
| HP:0011092 | Mulberry molar |
| HP:0011093 | Molarization of premolar |
| HP:0011080 | Abnormality of premolar morphology |
| HP:0001572 | Macrodontia |
| HP:0011094 | Overbite |
| HP:0011095 | Overjet |
| http://purl.obolibrary.org/obo/UBERON_0006204 | inguinal ligament |
| http://purl.obolibrary.org/obo/UBERON_0006203 | conchal part of pinna |
| http://purl.obolibrary.org/obo/UBERON_0008861 | pyloric gastric gland |
| http://purl.obolibrary.org/obo/UBERON_0000325 | gastric gland |
| http://purl.obolibrary.org/obo/UBERON_0006219 | deltoid pre-muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0006218 | common atrial chamber |
| http://purl.obolibrary.org/obo/UBERON_0008878 | palmar part of manus |
| http://purl.obolibrary.org/obo/UBERON_0005451 | segment of manus |
| http://purl.obolibrary.org/obo/UBERON_0006217 | cloacal membrane |
| http://purl.obolibrary.org/obo/UBERON_0008876 | hypodermis skeletal muscle layer |
| http://purl.obolibrary.org/obo/UBERON_0004253 | skin muscle |
| http://purl.obolibrary.org/obo/UBERON_0006215 | rhombic lip |
| http://purl.obolibrary.org/obo/UBERON_0006214 | carpus pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0009523 | mesenchyme of handplate |
| http://purl.obolibrary.org/obo/UBERON_0006213 | carpus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0006211 | buccopharyngeal membrane |
| http://purl.obolibrary.org/obo/UBERON_0006210 | body-wall mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0006227 | ethmoid bone primordium |
| http://purl.obolibrary.org/obo/GO_0016726 | oxidoreductase activity, acting on CH or CH2 groups, NAD or NADP as acceptor |
| http://purl.obolibrary.org/obo/GO_0016725 | oxidoreductase activity, acting on CH or CH2 groups |
| http://purl.obolibrary.org/obo/CHEBI_63533 | gonadotropin releasing hormone agonist |
| http://purl.obolibrary.org/obo/CHEBI_51060 | hormone agonist |
| http://purl.obolibrary.org/obo/CHEBI_51061 | hormone receptor modulator |
| http://purl.obolibrary.org/obo/CHEBI_90710 | receptor modulator |
| http://purl.obolibrary.org/obo/UBERON_0008887 | rectal venous plexus |
| http://purl.obolibrary.org/obo/UBERON_0008885 | right putamen |
| http://purl.obolibrary.org/obo/UBERON_0006224 | elbow joint primordium |
| http://purl.obolibrary.org/obo/UBERON_0008886 | pulmonary vascular system |
| http://purl.obolibrary.org/obo/UBERON_0006222 | future diencephalon |
| http://purl.obolibrary.org/obo/UBERON_0008884 | left putamen |
| http://purl.obolibrary.org/obo/UBERON_0008882 | spinal cord commissure |
| http://purl.obolibrary.org/obo/UBERON_0007699 | tract of spinal cord |
| http://purl.obolibrary.org/obo/GO_0016758 | transferase activity, transferring hexosyl groups |
| http://purl.obolibrary.org/obo/GO_0016757 | B3GALTL transfers glucose to O-fucosyl-proteins |
| HP:0011044 | Abnormal number of permanent teeth |
| HP:0011045 | Agenesis of permanent maxillary central incisor |
| http://purl.obolibrary.org/obo/UBERON_0008816 | embryonic head |
| http://purl.obolibrary.org/obo/UBERON_0000033 | head |
| HP:0011046 | Agenesis of primary maxillary central incisor |
| HP:0006293 | Agenesis of maxillary central incisor |
| http://purl.obolibrary.org/obo/UBERON_0008817 | thymus primordium endoderm |
| HP:0011047 | Agenesis of primary mandibular central incisor |
| http://purl.obolibrary.org/obo/UBERON_0008814 | pharyngeal arch system |
| HP:0011048 | Agenesis of permanent mandibular central incisor |
| HP:0006355 | Agenesis of mandibular central incisor |
| HP:0200161 | Agenesis of mandibular incisor |
| HP:0006289 | Agenesis of central incisor |
| HP:0011049 | Agenesis of primary maxillary lateral incisor |
| HP:0006481 | Abnormality of primary teeth |
| HP:0011041 | Aplasia/Hypoplasia of the cervical spine |
| HP:0011042 | Abnormal blood potassium concentration |
| http://purl.obolibrary.org/obo/UBERON_0008810 | nasopalatine nerve |
| http://purl.obolibrary.org/obo/UBERON_0008811 | intromittent organ |
| http://purl.obolibrary.org/obo/PR_000018315 | integrin alpha-M, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001012 | integrin alpha-M |
| http://purl.obolibrary.org/obo/PR_000001005 | integrin alpha with A domain |
| http://purl.obolibrary.org/obo/GO_0016747 | transferase activity, transferring acyl groups other than amino-acyl groups |
| http://purl.obolibrary.org/obo/GO_0016746 | Chenodeoxycholoyl CoA reacts with glycine or taurine to form glycochenodeoxycholate or taurochenodeoxycholate |
| HP:0011056 | Agenesis of first permanent molar tooth |
| HP:0011057 | Agenesis of second permanent molar |
| HP:0011055 | Agenesis of permanent molar |
| HP:0011054 | Agenesis of molar |
| HP:0011058 | Generalized periodontitis |
| HP:0011059 | Localized periodontitis |
| HP:0000704 | Periodontitis |
| http://purl.obolibrary.org/obo/UBERON_0008823 | neural tube derived brain |
| http://purl.obolibrary.org/obo/UBERON_0000955 | brain |
| http://purl.obolibrary.org/obo/UBERON_0008824 | duct of epididymis |
| HP:0011050 | Agenesis of permanent maxillary lateral incisor |
| HP:0000690 | Agenesis of maxillary lateral incisor |
| HP:0200153 | Agenesis of lateral incisor |
| HP:0200160 | Agenesis of maxillary incisor |
| HP:0006485 | Agenesis of incisor |
| HP:0011052 | Agenesis of maxillary premolar |
| HP:0011053 | Agenesis of mandibular premolar |
| HP:0011051 | Agenesis of premolar |
| HP:0000674 | Anodontia |
| HP:0001592 | Selective tooth agenesis |
| http://purl.obolibrary.org/obo/PR_000018300 | CD19 molecule, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001002 | CD19 molecule |
| http://purl.obolibrary.org/obo/PR_000018302 | CD34 molecule, signal peptide removed form |
| HP:0011065 | Conical incisor |
| HP:0000698 | Conical tooth |
| HP:0011067 | Mesiodens |
| HP:0011068 | Odontoma |
| HP:0100612 | Odontogenic neoplasm |
| HP:0011069 | Increased number of teeth |
| http://purl.obolibrary.org/obo/UBERON_0008836 | liver bud |
| http://purl.obolibrary.org/obo/UBERON_0008835 | hepatic diverticulum |
| http://purl.obolibrary.org/obo/UBERON_0004185 | endodermal part of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0009854 | digestive tract diverticulum |
| HP:0011060 | Dentinogenesis imperfecta limited to primary teeth |
| HP:0000703 | Dentinogenesis imperfecta |
| HP:0010299 | Abnormality of dentin |
| http://purl.obolibrary.org/obo/PR_P36888 | receptor-type tyrosine-protein kinase FLT3 (human) |
| HP:0011063 | Abnormality of incisor morphology |
| HP:0011064 | Abnormal number of incisors |
| http://purl.obolibrary.org/obo/CHEBI_63561 | ketoaldonate derivative |
| http://purl.obolibrary.org/obo/PR_P09242 | alkaline phosphatase, tissue-nonspecific isozyme (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0008833 | great auricular nerve |
| http://purl.obolibrary.org/obo/GO_0016769 | transferase activity, transferring nitrogenous groups |
| HP:0011076 | Abnormality of premolar |
| HP:0011078 | Abnormality of canine |
| HP:0011079 | Impacted tooth |
| HP:0000706 | Unerupted tooth |
| HP:0006292 | Abnormality of dental eruption |
| HP:0011071 | Abnormality of permanent molar morphology |
| HP:0011070 | Abnormality of molar morphology |
| HP:0011077 | Abnormality of molar |
| HP:0011072 | Rootless teeth |
| HP:0011074 | Localized hypoplasia of dental enamel |
| HP:0006297 | Hypoplasia of dental enamel |
| HP:0000685 | Hypoplasia of teeth |
| HP:0011075 | Green teeth |
| http://purl.obolibrary.org/obo/CHEBI_63571 | trisaccharide derivative |
| http://purl.obolibrary.org/obo/UBERON_0008843 | gubernaculum testis |
| http://purl.obolibrary.org/obo/UBERON_0008844 | gubernaculum (female) |
| http://purl.obolibrary.org/obo/UBERON_0004346 | gubernaculum (male or female) |
| http://purl.obolibrary.org/obo/UBERON_0008842 | suspensory ligament of testis |
| http://purl.obolibrary.org/obo/UBERON_0008841 | suspensory ligament |
| http://purl.obolibrary.org/obo/GO_0016774 | phosphotransferase activity, carboxyl group as acceptor |
| http://purl.obolibrary.org/obo/GO_0016772 | transferase activity, transferring phosphorus-containing groups |
| http://purl.obolibrary.org/obo/GO_0016740 | GTPBP3 and MTO1 transform uridine-34 yielding 5-taurinomethyluridine-34 in tRNA |
| http://purl.obolibrary.org/obo/PR_000021935 | immature protein part |
| http://purl.obolibrary.org/obo/BFO_0000024 | fiat object part |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=18171 | CD244 (human) |
| http://purl.obolibrary.org/obo/UBERON_0008805 | gingival groove |
| http://purl.obolibrary.org/obo/UBERON_0008803 | skin of cheek |
| http://purl.obolibrary.org/obo/UBERON_0008801 | parotid gland primordium |
| http://purl.obolibrary.org/obo/CHEBI_26536 | retinoic acid |
| http://purl.obolibrary.org/obo/CHEBI_79020 | alpha,beta-unsaturated monocarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_26534 | retinals |
| http://purl.obolibrary.org/obo/MOD_00693 | glycosylated residue |
| http://purl.obolibrary.org/obo/MOD_00764 | glycoconjugated residue |
| http://purl.obolibrary.org/obo/PR_000025513 | modified amino-acid residue |
| HP:0001607 | Subglottic stenosis |
| HP:0001604 | Vocal cord paresis |
| HP:0001605 | Vocal cord paralysis |
| HP:0001602 | Laryngeal stenosis |
| HP:0001601 | Laryngomalacia |
| HP:0001615 | Hoarse cry |
| HP:0001609 | Hoarse voice |
| HP:0001611 | Nasal speech |
| HP:0001612 | Weak cry |
| HP:0025429 | Abnormal cry |
| HP:0001620 | High pitched voice |
| HP:0001621 | Weak voice |
| HP:0001634 | Mitral valve prolapse |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8582 | PAH (human) |
| http://purl.obolibrary.org/obo/UBERON_0018132 | tail fat pad |
| http://purl.obolibrary.org/obo/UBERON_0018135 | fibrocollagenous connective tissue |
| HP:0011002 | Osteopetrosis |
| HP:0011003 | High myopia |
| HP:0011005 | Mixed cirrhosis |
| HP:0001394 | Cirrhosis |
| HP:0025637 | Vasospasm |
| HP:0025638 | Elevated urinary N-butyrylglycine |
| HP:0025639 | Increased urinary zinc level |
| HP:0025630 | Argininosuccinic aciduria |
| HP:0001681 | Angina pectoris |
| HP:0025631 | Alpha-aminobutyric aciduria |
| HP:0025632 | Reduced reactive oxygen species production in neutrophils |
| HP:0025463 | Abnormality of redox activity |
| HP:0025635 | Ureteral polyp |
| HP:0100516 | Neoplasm of the ureter |
| HP:0025636 | Endometritis |
| http://purl.obolibrary.org/obo/GO_0016684 | oxidoreductase activity, acting on peroxide as acceptor |
| HP:0001688 | Sinus bradycardia |
| HP:0011009 | Acute |
| HP:0001686 | Loss of voice |
| HP:0001684 | Secundum atrial septal defect |
| http://purl.obolibrary.org/obo/GO_1904171 | negative regulation of bleb assembly |
| http://purl.obolibrary.org/obo/GO_0014020 | primary neural tube formation |
| http://purl.obolibrary.org/obo/GO_0001838 | embryonic epithelial tube formation |
| http://purl.obolibrary.org/obo/GO_0072175 | epithelial tube formation |
| http://purl.obolibrary.org/obo/GO_0035148 | tube formation |
| HP:0001685 | Myocardial fibrosis |
| http://purl.obolibrary.org/obo/GO_1904172 | positive regulation of bleb assembly |
| http://purl.obolibrary.org/obo/GO_1904170 | regulation of bleb assembly |
| http://purl.obolibrary.org/obo/UBERON_0018143 | transverse process of cervical vertebra |
| HP:0011010 | Chronic |
| HP:0011011 | Subacute |
| HP:0011008 | Temporal pattern |
| http://purl.obolibrary.org/obo/UBERON_0018144 | cervical rib |
| http://purl.obolibrary.org/obo/UBERON_0018145 | lumbar rib |
| http://purl.obolibrary.org/obo/UBERON_0002228 | rib |
| http://purl.obolibrary.org/obo/UBERON_0015019 | rib endochondral element |
| HP:0011012 | Abnormal circulating polysaccharide concentration |
| http://purl.obolibrary.org/obo/UBERON_0018146 | transverse process of lumbar vertebra |
| http://purl.obolibrary.org/obo/UBERON_0018149 | angle of oral opening |
| HP:0025626 | Increased circulating oleate level |
| HP:0025627 | Increased circulating octadecanoate level |
| HP:0025628 | Increased circulating myristoleate level |
| HP:0025629 | Anti-myelin-associated glycoprotein antibody positivity |
| HP:0001691 | Muscular subvalvular aortic stenosis |
| HP:0025620 | Abnormal proportion of CD4+ central memory cells |
| http://purl.obolibrary.org/obo/PR_P10300 | T-cell surface glycoprotein CD8 beta chain (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_63473 | aromatic amino-acid anion |
| HP:0025624 | Reduced proportion of CD4+ effector memory T cells |
| http://purl.obolibrary.org/obo/CHEBI_63471 | branched-chain amino-acid anion |
| HP:0025625 | Elevated proportion of CD4+ effector memory T cells |
| HP:0025623 | Abnormal proportion of CD4+ effector memory cells |
| HP:0001699 | Sudden death |
| http://purl.obolibrary.org/obo/CHEBI_63477 | iodothyroninate |
| http://purl.obolibrary.org/obo/GO_0016670 | oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor |
| http://purl.obolibrary.org/obo/GO_0016667 | Reduction of disulphide bonds in MHC II antigens |
| HP:0001696 | Situs inversus totalis |
| HP:0001694 | Right-to-left shunt |
| HP:0001693 | Cardiac shunt |
| http://purl.obolibrary.org/obo/UBERON_0018156 | malleal ligament |
| http://purl.obolibrary.org/obo/UBERON_0018154 | ligament of middle ear |
| HP:0011023 | Abnormal circulating prostaglandin circulation |
| http://purl.obolibrary.org/obo/GO_0014039 | negative regulation of Schwann cell differentiation |
| HP:0025616 | Sterile abscess |
| http://purl.obolibrary.org/obo/PR_Q5GIT4 | vascular endothelial growth factor receptor 2 (zebrafish) |
| HP:0025618 | Reduced plasma cell count |
| http://purl.obolibrary.org/obo/UBERON_0018150 | skin of lower lip |
| HP:0025619 | Elevated plasma cell count |
| HP:0025617 | Abnormal plasma cell count |
| http://purl.obolibrary.org/obo/UBERON_0018151 | skin of upper lip |
| HP:0011020 | Abnormality of mucopolysaccharide metabolism |
| HP:0004371 | Abnormality of glycosaminoglycan metabolism |
| http://purl.obolibrary.org/obo/PR_P09326 | CD48 antigen (human) |
| http://purl.obolibrary.org/obo/GO_0099003 | vesicle-mediated transport in synapse |
| http://purl.obolibrary.org/obo/GO_0014040 | positive regulation of Schwann cell differentiation |
| http://purl.obolibrary.org/obo/GO_0014038 | regulation of Schwann cell differentiation |
| HP:0025611 | Epicanthus superciliaris |
| HP:0000286 | Epicanthus |
| http://purl.obolibrary.org/obo/UBERON_0006170 | mesonephric capsule |
| http://purl.obolibrary.org/obo/UBERON_0002015 | kidney capsule |
| HP:0025612 | Corneal astigmatism |
| http://purl.obolibrary.org/obo/GO_0014044 | Schwann cell development |
| http://purl.obolibrary.org/obo/GO_0021782 | glial cell development |
| HP:0011037 | Decreased urine output |
| HP:0012590 | Abnormal urine output |
| HP:0025604 | Orbital schwannoma |
| HP:0025605 | Lid lag on downgaze |
| HP:0025606 | Abnormal medial rectus muscle physiology |
| HP:0031740 | Abnormal horizontal rectus muscle physiology |
| HP:0025607 | Upper eyelid entropion |
| HP:0000621 | Entropion |
| HP:0025608 | Cicatricial ectropion |
| HP:0025609 | Anterior blepharitis |
| http://purl.obolibrary.org/obo/UBERON_0006183 | mesonephric glomerular capillary |
| http://purl.obolibrary.org/obo/UBERON_0004212 | glomerular capillary |
| HP:0025602 | Inferior rectus muscle restriction |
| HP:0025601 | Inferior rectus muscle weakness |
| HP:0025600 | Abnormal inferior rectus muscle physiology |
| HP:0025603 | Abnormal superior rectus muscle physiology |
| HP:0031748 | Abnormal vertical rectus muscle physiology |
| HP:0031755 | Abnormal rectus muscle physiology |
| HP:0025590 | Abnormal extraocular muscle physiology |
| http://www.informatics.jax.org/marker/MGI:2143702 | Enpp3 (mouse) |
| http://purl.obolibrary.org/obo/GO_0014037 | Schwann cell differentiation |
| http://purl.obolibrary.org/obo/PR_P22304 | iduronate 2-sulfatase (human) |
| http://purl.obolibrary.org/obo/PR_000008894 | iduronate 2-sulfatase |
| HP:0001648 | Cor pulmonale |
| HP:0001647 | Bicuspid aortic valve |
| HP:0031567 | Abnormal aortic valve cusp morphology |
| http://purl.obolibrary.org/obo/GO_0002087 | regulation of respiratory gaseous exchange by nervous system process |
| http://purl.obolibrary.org/obo/UBERON_0008777 | hypaxial musculature |
| HP:0001644 | Dilated cardiomyopathy |
| http://purl.obolibrary.org/obo/UBERON_0008778 | epaxial musculature |
| http://purl.obolibrary.org/obo/UBERON_0004479 | musculature of trunk |
| HP:0001645 | Sudden cardiac death |
| HP:0001695 | Cardiac arrest |
| http://purl.obolibrary.org/obo/UBERON_0008775 | proximal epiphysis of fibula |
| http://purl.obolibrary.org/obo/UBERON_0004388 | epiphysis of fibula |
| http://purl.obolibrary.org/obo/GO_0014063 | negative regulation of serotonin secretion |
| http://purl.obolibrary.org/obo/GO_0043271 | negative regulation of ion transport |
| HP:0001640 | Cardiomegaly |
| http://purl.obolibrary.org/obo/GO_0014064 | positive regulation of serotonin secretion |
| http://purl.obolibrary.org/obo/GO_0014062 | regulation of serotonin secretion |
| http://purl.obolibrary.org/obo/GO_0043270 | positive regulation of ion transport |
| http://purl.obolibrary.org/obo/GO_0043269 | regulation of ion transport |
| http://purl.obolibrary.org/obo/UBERON_0008772 | proximal epiphysis of tibia |
| http://purl.obolibrary.org/obo/UBERON_0004383 | epiphysis of tibia |
| HP:0001659 | Aortic regurgitation |
| HP:0001658 | Myocardial infarction |
| http://purl.obolibrary.org/obo/UBERON_0008780 | inner cell mass derived epiblast |
| http://purl.obolibrary.org/obo/UBERON_0002532 | epiblast (generic) |
| http://purl.obolibrary.org/obo/UBERON_0006127 | funiculus of spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0008788 | posterior cranial fossa |
| HP:0001655 | Patent foramen ovale |
| http://purl.obolibrary.org/obo/UBERON_0008789 | cranial fossa |
| http://purl.obolibrary.org/obo/UBERON_0004704 | bone fossa |
| HP:0001653 | Mitral regurgitation |
| HP:0001651 | Dextrocardia |
| http://purl.obolibrary.org/obo/UBERON_0008783 | dorsal venous arch |
| HP:0001650 | Aortic valve stenosis |
| HP:0031652 | Abnormal aortic valve physiology |
| http://purl.obolibrary.org/obo/UBERON_0018111 | muscle layer of rectum |
| http://purl.obolibrary.org/obo/UBERON_0018112 | rectum smooth muscle tissue |
| http://purl.obolibrary.org/obo/UBERON_0016886 | muscle tissue of terminal part of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0004231 | anal region smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004220 | large intestine smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0018115 | left renal pelvis |
| http://purl.obolibrary.org/obo/UBERON_0018116 | right renal pelvis |
| http://purl.obolibrary.org/obo/GO_1904115 | axon cytoplasm |
| http://purl.obolibrary.org/obo/UBERON_0018117 | left renal cortex interstitium |
| HP:0001669 | Transposition of the great arteries |
| http://purl.obolibrary.org/obo/UBERON_0018118 | right renal cortex interstitium |
| http://purl.obolibrary.org/obo/UBERON_0005270 | renal cortex interstitium |
| http://purl.obolibrary.org/obo/UBERON_0018119 | left renal medulla interstitium |
| http://purl.obolibrary.org/obo/UBERON_0018113 | left kidney interstitium |
| http://purl.obolibrary.org/obo/UBERON_0006136 | unmyelinated nerve fiber |
| HP:0001664 | Torsade de pointes |
| http://purl.obolibrary.org/obo/UBERON_0006135 | myelinated nerve fiber |
| HP:0001662 | Bradycardia |
| HP:0001663 | Ventricular fibrillation |
| http://purl.obolibrary.org/obo/UBERON_0006133 | funiculus of neuraxis |
| http://purl.obolibrary.org/obo/GO_1904100 | positive regulation of protein O-linked glycosylation |
| http://purl.obolibrary.org/obo/GO_0060050 | positive regulation of protein glycosylation |
| http://purl.obolibrary.org/obo/GO_0031401 | positive regulation of protein modification process |
| http://purl.obolibrary.org/obo/GO_1904098 | regulation of protein O-linked glycosylation |
| http://purl.obolibrary.org/obo/GO_0060049 | regulation of protein glycosylation |
| http://purl.obolibrary.org/obo/GO_0031399 | regulation of protein modification process |
| http://purl.obolibrary.org/obo/UBERON_0018120 | right renal medulla interstitium |
| http://purl.obolibrary.org/obo/UBERON_0018114 | right kidney interstitium |
| http://purl.obolibrary.org/obo/UBERON_0005211 | renal medulla interstitium |
| http://purl.obolibrary.org/obo/UBERON_0005215 | kidney interstitium |
| http://purl.obolibrary.org/obo/UBERON_0005169 | interstitial tissue |
| HP:0025641 | Elevated circulating glycolate concentration |
| HP:0001670 | Asymmetric septal hypertrophy |
| HP:0025643 | Tarlov cyst |
| HP:0001674 | Complete atrioventricular canal defect |
| HP:3000043 | Abnormal facial vein morphology |
| HP:3000047 | Abnormal glossopharyngeal nerve morphology |
| http://purl.obolibrary.org/obo/GO_0002442 | serotonin secretion involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0001820 | serotonin secretion |
| http://purl.obolibrary.org/obo/GO_0006837 | serotonin transport |
| http://purl.obolibrary.org/obo/GO_0015850 | organic hydroxy compound transport |
| http://purl.obolibrary.org/obo/GO_0015844 | monoamine transport |
| HP:3000046 | Abnormality of geniohyoid muscle |
| HP:3000045 | Abnormality of genioglossus muscle |
| http://purl.obolibrary.org/obo/GO_0002441 | histamine secretion involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0001821 | histamine secretion |
| HP:3000044 | Abnormality of frontal process of maxilla |
| http://purl.obolibrary.org/obo/PR_Q6DYE8 | ectonucleotide pyrophosphatase/phosphodiesterase family member 3 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001344 | ectonucleotide pyrophosphatase/phosphodiesterase family member 3 |
| HP:3000049 | Abnormal greater palatine artery morphology |
| HP:3000048 | Abnormal great auricular nerve morphology |
| HP:3000032 | Abnormality of central retinal artery |
| HP:3000031 | Abnormality of anterior ethmoidal artery |
| HP:3000035 | Abnormality of cervical plexus |
| http://purl.obolibrary.org/obo/PR_000018620 | CD27 molecule, signal peptide removed form |
| HP:3000039 | Abnormality of dorsal nasal artery |
| HP:3000038 | Abnormal cricoid cartilage morphology |
| HP:3000021 | Abnormality of buccal fat pad |
| HP:3000020 | Abnormality of zygomaticus minor muscle |
| http://purl.obolibrary.org/obo/GO_0002465 | peripheral tolerance induction |
| http://purl.obolibrary.org/obo/GO_0002461 | tolerance induction dependent upon immune response |
| HP:3000025 | Abnormality of ciliary ganglion |
| HP:3000023 | Abnormality of angular artery |
| HP:3000029 | Abnormality of depressor labii inferioris |
| HP:3000028 | Abnormality of depressor anguli oris muscle |
| HP:3000027 | Abnormality of buccinator muscle |
| http://purl.obolibrary.org/obo/GO_0002456 | T cell mediated immunity |
| HP:3000010 | Abnormality of orbicularis oris muscle |
| HP:3000014 | Abnormality of procerus muscle |
| HP:3000013 | Abnormality of platysma |
| HP:3000012 | Abnormality of palatopharyngeus muscle |
| HP:3000011 | Abnormality of palatoglossus muscle |
| HP:3000018 | Abnormality of zygomaticus major muscle |
| http://purl.obolibrary.org/obo/GO_0002446 | neutrophil mediated immunity |
| HP:3000017 | Abnormality of temporalis muscle |
| HP:3000016 | Abnormality of styloglossus muscle |
| http://purl.obolibrary.org/obo/GO_0002444 | myeloid leukocyte mediated immunity |
| HP:3000015 | Abnormality of risorius muscle |
| HP:0011164 | Vegetative auras |
| HP:0011168 | Eyelid myoclonias |
| HP:0011169 | Generalized clonic seizure |
| HP:3000002 | Abnormal inner ear epithelium morphology |
| HP:0011162 | Psychic auras |
| HP:3000007 | Abnormality of mentalis muscle |
| HP:3000006 | Abnormality of medial pterygoid muscle |
| HP:3000004 | Abnormality of frontalis muscle belly |
| HP:3000009 | Abnormality of nasalis muscle |
| HP:3000008 | Abnormality of mylohyoid muscle |
| HP:0011177 | EEG with 4-5/second background activity |
| HP:0011178 | Alpha-EEG |
| HP:0011170 | Generalized myoclonic-atonic seizure |
| HP:0011171 | Simple febrile seizure |
| http://purl.obolibrary.org/obo/PR_P48757 | gastrin (mouse) |
| http://purl.obolibrary.org/obo/PR_000007856 | gastrin |
| HP:0011187 | Focal EEG discharges with propagation to ipsilateral hemisphere |
| HP:0011188 | Focal EEG discharges with secondary generalization |
| HP:0011189 | Bilateral multifocal epileptiform discharges |
| http://purl.obolibrary.org/obo/UBERON_0008715 | muscle tissue of prostate |
| http://purl.obolibrary.org/obo/UBERON_0008713 | pectoral girdle and thoracic body wall skeletal muscle |
| HP:0011180 | Partial beta-EEG |
| HP:0011179 | Beta-EEG |
| HP:0011181 | Low voltage EEG |
| HP:0011183 | EEG with hyperventilation-induced focal epileptiform discharges |
| HP:0011184 | EEG with hyperventilation-induced generalized epileptiform discharges |
| HP:0011197 | EEG with focal spike waves |
| HP:0011199 | EEG with generalized sharp slow waves |
| HP:0011190 | Uni- and bilateral multifocal epileptiform discharges |
| HP:0011191 | Unilateral multifocal epileptiform discharges |
| HP:0011192 | Polymorphic focal epileptiform discharges |
| HP:0011194 | EEG with series of focal spikes |
| HP:0011193 | EEG with focal spikes |
| http://purl.obolibrary.org/obo/CHEBI_18401 | phenylacetate |
| http://purl.obolibrary.org/obo/CHEBI_18408 | cobamamide |
| HP:0001727 | Thromboembolic stroke |
| HP:0001723 | Restrictive cardiomyopathy |
| HP:0001722 | High-output congestive heart failure |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0012092 | Abnormality of exocrine pancreas physiology |
| HP:0001737 | Pancreatic cysts |
| HP:0001734 | Annular pancreas |
| HP:0001735 | Acute pancreatitis |
| http://purl.obolibrary.org/obo/GO_0051351 | positive regulation of ligase activity |
| http://purl.obolibrary.org/obo/GO_0051350 | negative regulation of lyase activity |
| http://purl.obolibrary.org/obo/GO_0051352 | negative regulation of ligase activity |
| HP:0001730 | Progressive hearing impairment |
| HP:0001747 | Accessory spleen |
| http://purl.obolibrary.org/obo/GO_0051348 | negative regulation of transferase activity |
| HP:0001748 | Polysplenia |
| http://purl.obolibrary.org/obo/GO_0051347 | positive regulation of transferase activity |
| HP:0001746 | Asplenia |
| HP:0010451 | Aplasia/Hypoplasia of the spleen |
| http://purl.obolibrary.org/obo/GO_0051349 | positive regulation of lyase activity |
| http://purl.obolibrary.org/obo/GO_0051340 | regulation of ligase activity |
| HP:0001744 | Splenomegaly |
| HP:0001741 | Phimosis |
| HP:0100587 | Abnormality of the preputium |
| HP:0001742 | Nasal obstruction |
| HP:0001756 | Vestibular hypofunction |
| http://purl.obolibrary.org/obo/GO_0051339 | regulation of lyase activity |
| HP:0001757 | High-frequency sensorineural hearing impairment |
| http://purl.obolibrary.org/obo/GO_0051338 | regulation of transferase activity |
| http://purl.obolibrary.org/obo/GO_0051325 | interphase |
| http://purl.obolibrary.org/obo/PATO_0002478 | transversely striated |
| http://purl.obolibrary.org/obo/PATO_0001410 | striated |
| http://purl.obolibrary.org/obo/GO_0051321 | meiotic cell cycle |
| http://purl.obolibrary.org/obo/UBERON_0006074 | lumbar region of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0006073 | thoracic region of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0006072 | cervical region of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0006071 | caudal region |
| http://purl.obolibrary.org/obo/GO_0051319 | G2 phase |
| HP:0001708 | Right ventricular failure |
| HP:0001705 | Right ventricular outlet tract obstruction |
| HP:0001706 | Endocardial fibroelastosis |
| HP:0001704 | Tricuspid valve prolapse |
| HP:0001701 | Pericarditis |
| HP:0001700 | Myocardial necrosis |
| http://purl.obolibrary.org/obo/UBERON_0006098 | basal nuclear complex |
| HP:0001716 | Wolff-Parkinson-White syndrome |
| HP:0004309 | Ventricular preexcitation |
| HP:0001717 | Coronary artery calcification |
| http://purl.obolibrary.org/obo/PATO_0002487 | single organismal process quality |
| http://purl.obolibrary.org/obo/PATO_0002486 | multi-organismal process quality |
| HP:0011120 | Concave nasal ridge |
| HP:0011126 | Nephroptosis |
| HP:0100542 | Abnormal localization of kidney |
| HP:0011127 | Perioral eczema |
| http://purl.obolibrary.org/obo/PR_000018598 | signal transducer CD24, signal peptide removed form |
| HP:0011128 | Acute esophageal necrosis |
| HP:0011129 | Bilateral fetal pyelectasis |
| HP:0011131 | Perianal rash |
| HP:0011132 | Chronic furunculosis |
| HP:0011133 | Increased sensitivity to ionizing radiation |
| HP:0011134 | Low-grade fever |
| HP:0011137 | Non-pruritic urticaria |
| http://purl.obolibrary.org/obo/PR_000018580 | natural killer cell receptor 2B4, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001896 | natural killer cell receptor 2B4 |
| http://purl.obolibrary.org/obo/CHEBI_33937 | macronutrient |
| HP:0011130 | Abnormal renal calyx morphology |
| http://purl.obolibrary.org/obo/CHEBI_33942 | ribose |
| HP:0011139 | Gastric duplication |
| HP:0011142 | Age-related nuclear cataract |
| HP:0011143 | Age-related cortical cataract |
| HP:0011144 | Age-related posterior subcapsular cataract |
| HP:0011145 | Symptomatic seizures |
| HP:0011149 | Absence seizure with eyelid myoclonia |
| HP:0011141 | Age-related cataract |
| http://purl.obolibrary.org/obo/PR_000018574 | CD14 molecule, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001889 | CD14 molecule |
| http://purl.obolibrary.org/obo/UBERON_0006059 | falx cerebri |
| http://purl.obolibrary.org/obo/UBERON_0006056 | posterior surface of head |
| HP:0011150 | Myoclonic absence seizure |
| HP:0011151 | Atypical absence status epilepticus |
| HP:0011152 | Early onset absence seizures |
| HP:0011147 | Typical absence seizure |
| http://purl.obolibrary.org/obo/UBERON_0006063 | cartilaginous neural arch |
| http://purl.obolibrary.org/obo/PR_000018567 | leukosialin, signal peptide removed form |
| http://purl.obolibrary.org/obo/UBERON_0006068 | bone of tail |
| http://purl.obolibrary.org/obo/UBERON_0006067 | musculature of hindlimb zeugopod |
| http://purl.obolibrary.org/obo/UBERON_0004466 | musculature of leg |
| http://purl.obolibrary.org/obo/UBERON_0004482 | musculature of lower limb |
| http://purl.obolibrary.org/obo/UBERON_0007270 | pelvic appendage musculature |
| http://purl.obolibrary.org/obo/UBERON_0014792 | musculature of pelvic complex |
| http://purl.obolibrary.org/obo/UBERON_0004480 | musculature of limb |
| http://purl.obolibrary.org/obo/UBERON_0007271 | appendage musculature |
| http://purl.obolibrary.org/obo/GO_1904252 | negative regulation of bile acid metabolic process |
| http://purl.obolibrary.org/obo/GO_1904253 | positive regulation of bile acid metabolic process |
| http://purl.obolibrary.org/obo/GO_1904251 | regulation of bile acid metabolic process |
| HP:0001769 | Broad foot |
| http://purl.obolibrary.org/obo/CHEBI_18376 | dermatan sulfate |
| http://purl.obolibrary.org/obo/CHEBI_35722 | sulfated glycosaminoglycan |
| http://purl.obolibrary.org/obo/CHEBI_35724 | carbohydrate sulfate |
| http://purl.obolibrary.org/obo/CHEBI_25704 | organic sulfate |
| http://purl.obolibrary.org/obo/CHEBI_57948 | 5-oxo-D-prolinate |
| http://purl.obolibrary.org/obo/CHEBI_57947 | creatine zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_70979 | N-isobutyrylglycine |
| HP:0001765 | Hammertoe |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001762 | Talipes equinovarus |
| HP:0001775 | Tarsal osteovalgus |
| HP:0001772 | Talipes equinovalgus |
| http://purl.obolibrary.org/obo/UBERON_0006002 | vitelline artery |
| http://purl.obolibrary.org/obo/UBERON_0004365 | vitelline blood vessel |
| HP:0001773 | Short foot |
| HP:0001771 | Achilles tendon contracture |
| HP:0011102 | Ileal atresia |
| HP:0011105 | Hypervolemia |
| http://purl.obolibrary.org/obo/CHEBI_70958 | 1-methylhistidine |
| http://purl.obolibrary.org/obo/CHEBI_70959 | 3-methylhistidine |
| http://purl.obolibrary.org/obo/CHEBI_57966 | beta-alanine zwitterion |
| HP:0011106 | Hypovolemia |
| HP:0011104 | Abnormality of blood volume homeostasis |
| HP:0011107 | Recurrent aphthous stomatitis |
| HP:0010280 | Stomatitis |
| HP:0011108 | Recurrent sinusitis |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0001785 | Ankle swelling |
| HP:0011109 | Chronic sinusitis |
| HP:0000246 | Sinusitis |
| HP:0001786 | Narrow foot |
| HP:0001783 | Broad metatarsal |
| http://purl.obolibrary.org/obo/UBERON_0006010 | hyaloid canal |
| HP:0001782 | Bulbous tips of toes |
| HP:0011110 | Tonsillitis |
| HP:0025439 | Pharyngitis |
| HP:0011114 | Defective production of NFKB1-dependent cytokines |
| HP:0011115 | Abnormality of chemokine secretion |
| HP:0011116 | Abnormality of interferon secretion |
| http://purl.obolibrary.org/obo/PATO_0002400 | fusiform |
| http://purl.obolibrary.org/obo/PATO_0001409 | spindle-shaped |
| http://purl.obolibrary.org/obo/PATO_0002403 | generalized |
| http://purl.obolibrary.org/obo/CHEBI_18361 | diphosphate(4-) |
| http://purl.obolibrary.org/obo/CHEBI_35782 | diphosphate ion |
| HP:0001790 | Nonimmune hydrops fetalis |
| HP:0001791 | Fetal ascites |
| HP:0001541 | Ascites |
| http://purl.obolibrary.org/obo/CHEBI_57977 | bilirubin(2-) |
| http://purl.obolibrary.org/obo/CHEBI_59252 | linear tetrapyrrole anion |
| http://purl.obolibrary.org/obo/CHEBI_18367 | phosphate(3-) |
| http://purl.obolibrary.org/obo/CHEBI_79387 | trivalent inorganic anion |
| HP:0011117 | Abnormality of interleukin secretion |
| HP:0011118 | Abnormality of tumor necrosis factor secretion |
| HP:0011113 | Abnormality of cytokine secretion |
| HP:0001799 | Short nail |
| HP:0011119 | Abnormality of the nasal dorsum |
| http://purl.obolibrary.org/obo/PR_P24807 | signal transducer CD24 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001932 | signal transducer CD24 |
| http://purl.obolibrary.org/obo/GO_0002322 | B cell proliferation involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002312 | B cell activation involved in immune response |
| http://purl.obolibrary.org/obo/PR_000018508 | low affinity immunoglobulin gamma Fc region receptor II, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001479 | low affinity immunoglobulin gamma Fc region receptor II |
| http://purl.obolibrary.org/obo/GO_0002309 | T cell proliferation involved in immune response |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4458 | GPI (human) |
| HP:0011285 | Long-segment aganglionic megacolon |
| HP:0011286 | Total colonic aganglionosis |
| HP:0011287 | EEG with occipital sharp slow waves |
| HP:0011288 | EEG with parietal sharp slow waves |
| HP:0011289 | EEG with temporal sharp slow waves |
| HP:0011284 | Short-segment aganglionic megacolon |
| HP:0002251 | Aganglionic megacolon |
| HP:0011296 | EEG with temporal sharp waves |
| HP:0011298 | Prominent digit pad |
| HP:0011299 | Partial absence of finger |
| http://purl.obolibrary.org/obo/GO_0002351 | serotonin production involved in inflammatory response |
| HP:0011290 | EEG with frontal sharp slow waves |
| HP:0011291 | EEG with central sharp slow waves |
| HP:0011195 | EEG with focal sharp slow waves |
| HP:0011292 | EEG with occipital sharp waves |
| HP:0011293 | EEG with central sharp waves |
| HP:0011294 | EEG with frontal sharp waves |
| HP:0011295 | EEG with parietal sharp waves |
| HP:0011196 | EEG with focal sharp waves |
| http://purl.obolibrary.org/obo/PR_000018545 | Thy-1 membrane glycoprotein, signal peptide removed form |
| http://purl.obolibrary.org/obo/GO_0002349 | histamine production involved in inflammatory response |
| http://purl.obolibrary.org/obo/PR_000018539 | T-cell surface glycoprotein CD5, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001839 | T-cell surface glycoprotein CD5 |
| http://purl.obolibrary.org/obo/PR_000018537 | CD7 molecule, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001836 | CD7 molecule |
| http://purl.obolibrary.org/obo/CHEBI_33916 | aldopentose |
| http://purl.obolibrary.org/obo/CHEBI_25901 | pentose |
| http://purl.obolibrary.org/obo/GO_0002377 | immunoglobulin production |
| http://purl.obolibrary.org/obo/GO_0002374 | cytokine secretion involved in immune response |
| http://purl.obolibrary.org/obo/GO_0050663 | cytokine secretion |
| http://purl.obolibrary.org/obo/PR_000018523 | 5'-nucleotidase, signal peptide removed form |
| http://purl.obolibrary.org/obo/GO_0002367 | cytokine production involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002440 | production of molecular mediator of immune response |
| HP:0001905 | Congenital thrombocytopenia |
| HP:0001904 | Neutropenia in presence of anti-neutropil antibodies |
| HP:0001902 | Giant platelets |
| HP:0001900 | Increased hemoglobin |
| HP:0002152 | Hyperproteinemia |
| HP:0001907 | Thromboembolism |
| HP:0001908 | Hypoplastic anemia |
| http://purl.obolibrary.org/obo/PR_P22091 | T-cell acute lymphocytic leukemia protein 1 homolog (mouse) |
| HP:0001915 | Aplastic anemia |
| HP:0001912 | Abnormal basophil morphology |
| http://purl.obolibrary.org/obo/CHEBI_350546 | serotonin(1+) |
| HP:0001919 | Acute kidney injury |
| HP:0000083 | Renal insufficiency |
| http://purl.obolibrary.org/obo/GO_0004930 | G protein-coupled receptor activity |
| http://purl.obolibrary.org/obo/GO_0004888 | Sphingomyelinase is activated by the NGF:p75NTR complex |
| http://purl.obolibrary.org/obo/GO_0038023 | signaling receptor activity |
| http://purl.obolibrary.org/obo/GO_0060089 | molecular transducer activity |
| http://purl.obolibrary.org/obo/GO_0016903 | oxidoreductase activity, acting on the aldehyde or oxo group of donors |
| HP:0001848 | Calcaneovalgus deformity |
| HP:0001849 | Foot oligodactyly |
| HP:0012165 | Oligodactyly |
| HP:0001847 | Long hallux |
| HP:0010511 | Long toe |
| HP:0001845 | Overlapping toe |
| http://purl.obolibrary.org/obo/GO_0051245 | negative regulation of cellular defense response |
| http://purl.obolibrary.org/obo/GO_0110151 | positive regulation of biomineralization |
| http://purl.obolibrary.org/obo/GO_0110150 | negative regulation of biomineralization |
| http://purl.obolibrary.org/obo/GO_0110149 | regulation of biomineralization |
| HP:0001840 | Metatarsus adductus |
| HP:0001859 | Distal foot symphalangism |
| HP:0010179 | Symphalangism affecting the phalanges of the toes |
| HP:0100235 | Synostosis involving bones of the toes |
| http://purl.obolibrary.org/obo/GO_1904320 | positive regulation of smooth muscle contraction involved in micturition |
| HP:0001853 | Bifid distal phalanx of toe |
| HP:0001854 | Podagra |
| HP:0001852 | Sandal gap |
| HP:0001868 | Autoamputation of foot |
| http://purl.obolibrary.org/obo/GO_1904319 | negative regulation of smooth muscle contraction involved in micturition |
| http://purl.obolibrary.org/obo/GO_1904318 | regulation of smooth muscle contraction involved in micturition |
| http://purl.obolibrary.org/obo/GO_0098801 | regulation of renal system process |
| http://purl.obolibrary.org/obo/CHEBI_57887 | tryptaminium |
| HP:0001864 | Clinodactyly of the 5th toe |
| HP:0010344 | Deviation of the 5th toe |
| http://purl.obolibrary.org/obo/GO_0051216 | cartilage development |
| http://purl.obolibrary.org/obo/CHEBI_18287 | L-fucose |
| http://purl.obolibrary.org/obo/CHEBI_33984 | fucose |
| http://purl.obolibrary.org/obo/CHEBI_23622 | deoxygalactose |
| http://purl.obolibrary.org/obo/CHEBI_23628 | deoxyhexose |
| http://purl.obolibrary.org/obo/CHEBI_23639 | deoxy sugar |
| http://purl.obolibrary.org/obo/CHEBI_43254 | (4S)-4-hydroxy-3,4-dihydropyrimidin-2(1H)-one |
| http://purl.obolibrary.org/obo/CHEBI_38337 | pyrimidone |
| http://purl.obolibrary.org/obo/CHEBI_39447 | pyrimidines |
| http://purl.obolibrary.org/obo/CHEBI_38313 | diazines |
| http://purl.obolibrary.org/obo/GO_0051213 | Oxidative dealkylation of 1-EtA damaged DNA by ABH3 |
| HP:0001876 | Pancytopenia |
| HP:0001870 | Acroosteolysis of distal phalanges (feet) |
| HP:0001842 | Foot acroosteolysis |
| HP:0010189 | Osteolytic defects of the distal phalanges of the toes |
| HP:0010177 | Osteolytic defects of the phalanges of the toes |
| HP:0001807 | Ridged nail |
| HP:0001804 | Hypoplastic fingernail |
| HP:0001802 | Absent toenail |
| HP:0001803 | Nail pits |
| HP:0001808 | Fragile nails |
| HP:0001809 | Split nail |
| HP:0001817 | Absent fingernail |
| HP:0001798 | Anonychia |
| HP:0001818 | Paronychia |
| HP:0100803 | Abnormality of the periungual region |
| HP:0001816 | Thin nail |
| HP:0001814 | Deep-set nails |
| HP:0001812 | Hyperconvex fingernails |
| HP:0001810 | Dystrophic toenail |
| HP:0001827 | Genital tract atresia |
| HP:0001824 | Weight loss |
| HP:0001822 | Hallux valgus |
| HP:0100500 | Fibular deviation of toes |
| HP:0001820 | Leukonychia |
| HP:0001821 | Broad nail |
| HP:0001839 | Split foot |
| HP:0100257 | Ectrodactyly |
| HP:0001838 | Rocker bottom foot |
| HP:0001836 | Camptodactyly of toe |
| HP:0001833 | Long foot |
| HP:0011241 | Serpiginous stem of antihelix |
| HP:0011242 | Underdeveloped stem of antihelix |
| HP:0011246 | Underdeveloped superior crus of antihelix |
| HP:0011247 | Prominent superior crus of antihelix |
| HP:0011245 | Abnormality of superior crus of antihelix |
| HP:0011248 | Everted antitragus |
| http://purl.obolibrary.org/obo/CHEBI_18211 | citrulline |
| http://purl.obolibrary.org/obo/CHEBI_23324 | citrullines |
| http://purl.obolibrary.org/obo/GO_0002284 | myeloid dendritic cell differentiation involved in immune response |
| http://purl.obolibrary.org/obo/GO_0043011 | myeloid dendritic cell differentiation |
| HP:0011240 | Prominent stem of antihelix |
| HP:0011244 | Abnormality of stem of antihelix |
| http://purl.obolibrary.org/obo/UBERON_0008572 | posterior crico-arytenoid |
| HP:0011249 | Absent antitragus |
| http://purl.obolibrary.org/obo/UBERON_0008573 | lateral crico-arytenoid |
| http://purl.obolibrary.org/obo/UBERON_0010932 | crico-arytenoid muscle |
| HP:0011253 | Type I cryptotia |
| HP:0011254 | Type II cryptotia |
| HP:0011252 | Cryptotia |
| HP:0011255 | Absent crus of helix |
| HP:0011256 | Crus of helix connected to antihelix |
| HP:0011257 | Serpiginous crus of helix |
| HP:0011258 | Tragal bridge of crus of helix |
| HP:0011259 | Expanded terminal portion of crus of helix |
| http://purl.obolibrary.org/obo/GO_0002277 | myeloid dendritic cell activation involved in immune response |
| http://purl.obolibrary.org/obo/GO_0001773 | myeloid dendritic cell activation |
| HP:0011250 | Bifid antitragus |
| HP:0011251 | Underdeveloped antitragus |
| http://purl.obolibrary.org/obo/GO_0002275 | myeloid cell activation involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002274 | myeloid leukocyte activation |
| http://purl.obolibrary.org/obo/NBO_0000886 | increased amount of liquid in drinking regulation |
| http://purl.obolibrary.org/obo/GO_0002269 | leukocyte activation involved in inflammatory response |
| http://purl.obolibrary.org/obo/UBERON_0008588 | procerus |
| http://purl.obolibrary.org/obo/UBERON_0008585 | levator veli palatini |
| HP:0011263 | Forward facing earlobe |
| http://purl.obolibrary.org/obo/CHEBI_79210 | alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(1-) |
| http://purl.obolibrary.org/obo/CHEBI_79346 | anionic ganglioside |
| http://purl.obolibrary.org/obo/CHEBI_63551 | carbohydrate acid derivative anion |
| HP:0011264 | Discontinuous ascending root of helix |
| HP:0011265 | Cleft earlobe |
| HP:0011266 | Microtia, first degree |
| HP:0011267 | Microtia, third degree |
| HP:0008551 | Microtia |
| HP:0011268 | Absent tragus |
| HP:0011269 | Bifid tragus |
| HP:0011260 | Darwin notch of helix |
| HP:0011261 | Darwin tubercle of helix |
| HP:0011262 | Crimped helix |
| http://purl.obolibrary.org/obo/UBERON_0008593 | zygomaticus major muscle |
| http://purl.obolibrary.org/obo/UBERON_0008594 | zygomaticus minor muscle |
| http://purl.obolibrary.org/obo/UBERON_0010437 | zygomaticus muscle |
| http://purl.obolibrary.org/obo/UBERON_0008597 | depressor anguli oris muscle |
| http://purl.obolibrary.org/obo/UBERON_0008598 | risorius muscle |
| http://purl.obolibrary.org/obo/UBERON_0008595 | levator anguli oris |
| http://purl.obolibrary.org/obo/UBERON_0008596 | mentalis muscle |
| HP:0011275 | Recurrent mycobacterium avium complex infections |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0011278 | Intrapulmonary sequestration |
| HP:0100632 | Pulmonary sequestration |
| http://purl.obolibrary.org/obo/GO_0002292 | T cell differentiation involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002286 | T cell activation involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002285 | lymphocyte activation involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002366 | leukocyte activation involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002263 | cell activation involved in immune response |
| HP:0011270 | Duplicated tragus |
| HP:0011271 | Prominent tragus |
| HP:0011272 | Underdeveloped tragus |
| http://purl.obolibrary.org/obo/CHEBI_79209 | alpha-N-acetylneuraminyl-(2->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide |
| HP:0011273 | Anisocytosis |
| http://purl.obolibrary.org/obo/CHEBI_33842 | aromatic annulene |
| http://purl.obolibrary.org/obo/CHEBI_33662 | annulene |
| http://purl.obolibrary.org/obo/CHEBI_33664 | monocyclic hydrocarbon |
| HP:0011202 | EEG with diffuse acceleration |
| HP:0011204 | EEG with continuous slow activity |
| http://purl.obolibrary.org/obo/GO_0110111 | negative regulation of animal organ morphogenesis |
| http://purl.obolibrary.org/obo/GO_0110110 | positive regulation of animal organ morphogenesis |
| http://purl.obolibrary.org/obo/NBO_0000851 | increased amount of liquid in a single drinking act |
| http://purl.obolibrary.org/obo/CHEBI_18259 | N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosylceramide |
| http://purl.obolibrary.org/obo/CHEBI_88167 | N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide |
| http://purl.obolibrary.org/obo/CHEBI_23075 | glycotetraosylceramide |
| http://purl.obolibrary.org/obo/CHEBI_18258 | 3,3',5-triiodo-L-thyronine |
| http://purl.obolibrary.org/obo/CHEBI_18257 | ornithine |
| HP:0011205 | EEG with intermittent slow activity |
| HP:0001886 | Foot osteomyelitis |
| HP:0011206 | EEG with generalized slow activity grade 1 |
| HP:0011207 | EEG with generalized slow activity grade 2 |
| HP:0011208 | EEG with generalized slow activity grade 3 |
| HP:0001885 | Short 2nd toe |
| HP:0011209 | EEG with generalized slow activity grade 4 |
| HP:0011210 | EEG with occipital slowing |
| HP:0011211 | EEG with photoparoxysmal response grade I |
| HP:0011212 | EEG with photoparoxysmal response grade II |
| HP:3000072 | Abnormal levator palpebrae superioris morphology |
| HP:0011213 | EEG with photoparoxysmal response grade III |
| HP:3000071 | Abnormality of levator labii superioris |
| HP:0011214 | EEG with photoparoxysmal response grade IV |
| HP:0001899 | Increased hematocrit |
| HP:0031850 | Abnormal hematocrit |
| HP:3000070 | Abnormality of levator anguli oris |
| http://purl.obolibrary.org/obo/PATO_0002505 | nucleated |
| http://purl.obolibrary.org/obo/PATO_0001404 | nucleate quality |
| HP:0011215 | Hemihypsarrhythmia |
| HP:3000076 | Abnormality of lingual tonsil |
| HP:3000074 | Abnormal lingual artery morphology |
| HP:3000073 | Abnormality of levator veli palatini muscle |
| HP:3000079 | Abnormality of mandibular symphysis |
| HP:3000078 | Abnormal mandible coronoid process morphology |
| HP:0001890 | Autoimmune hemolytic anemia |
| HP:0001897 | Normocytic anemia |
| HP:0001898 | Increased red blood cell mass |
| HP:0001901 | Polycythemia |
| HP:0001895 | Normochromic anemia |
| HP:0011219 | Short face |
| HP:0000274 | Small face |
| HP:0001896 | Reticulocytopenia |
| HP:0001894 | Thrombocytosis |
| HP:0001891 | Iron deficiency anemia |
| HP:0011220 | Prominent forehead |
| HP:0011221 | Vertical forehead creases |
| HP:0011222 | Depressed glabella |
| HP:0002056 | Abnormality of the glabella |
| HP:3000061 | Abnormality of infra-orbital nerve |
| HP:0011223 | Metopic depression |
| HP:0011224 | Ablepharon |
| HP:3000060 | Abnormality of infraorbital artery |
| HP:3000065 | Abnormal lacrimal artery morphology |
| HP:3000064 | Abnormality of intrinsic muscle of tongue |
| HP:3000063 | Abnormality of internal jugular vein |
| http://purl.obolibrary.org/obo/PR_000018492 | glycophorin-A, signal peptide removed form |
| HP:3000069 | Abnormality of lateral rectus extra-ocular muscle |
| HP:3000068 | Abnormality of lateral pterygoid muscle |
| HP:3000067 | Abnormal lateral cricoarytenoid muscle morphology |
| http://purl.obolibrary.org/obo/CHEBI_33893 | reagent |
| HP:0011227 | Elevated C-reactive protein level |
| http://purl.obolibrary.org/obo/CHEBI_33892 | iron coordination entity |
| HP:0011228 | Horizontal eyebrow |
| HP:0011230 | Laterally extended eyebrow |
| HP:0011231 | Prominent eyelashes |
| HP:0011232 | Infra-orbital fold |
| HP:0011233 | Antihelical shelf |
| HP:0011234 | Absent antihelix |
| HP:0011235 | Additional crus of antihelix |
| HP:0011236 | Angulated antihelix |
| HP:0011237 | Broad inferior crus of antihelix |
| HP:3000054 | Abnormality of inferior alveolar artery |
| http://purl.obolibrary.org/obo/GO_1904348 | negative regulation of small intestine smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_1904305 | negative regulation of gastro-intestinal system smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0045986 | negative regulation of smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0045932 | negative regulation of muscle contraction |
| http://purl.obolibrary.org/obo/GO_1904349 | positive regulation of small intestine smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_1904347 | regulation of small intestine smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_1904306 | positive regulation of gastro-intestinal system smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_1904304 | regulation of gastro-intestinal system smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0045987 | positive regulation of smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0045933 | positive regulation of muscle contraction |
| http://purl.obolibrary.org/obo/GO_0006940 | regulation of smooth muscle contraction |
| http://purl.obolibrary.org/obo/CHEBI_18243 | dopamine |
| http://purl.obolibrary.org/obo/CHEBI_33567 | catecholamine |
| http://purl.obolibrary.org/obo/CHEBI_25375 | monoamine molecular messenger |
| http://purl.obolibrary.org/obo/CHEBI_63534 | monoamine |
| http://purl.obolibrary.org/obo/CHEBI_64365 | aralkylamino compound |
| http://purl.obolibrary.org/obo/CHEBI_33566 | catechols |
| http://purl.obolibrary.org/obo/CHEBI_33570 | benzenediols |
| HP:3000052 | Abnormality of hyoid bone |
| HP:3000051 | Abnormal hyoglossus muscle morphology |
| HP:3000058 | Abnormality of inferior rectus extraocular muscle |
| HP:3000057 | Abnormality of inferior oblique extraocular muscle |
| http://purl.obolibrary.org/obo/CHEBI_18240 | 4-hydroxy-L-proline |
| http://purl.obolibrary.org/obo/CHEBI_84186 | L-proline derivative |
| HP:3000056 | Abnormality of artery of lower lip |
| HP:3000024 | Abnormal facial artery morphology |
| HP:3000041 | Abnormality of external carotid artery |
| HP:3000055 | Abnormality of inferior alveolar nerve |
| HP:3000059 | Abnormal inferior thyroid vein morphology |
| http://purl.obolibrary.org/obo/CHEBI_18248 | iron atom |
| http://purl.obolibrary.org/obo/CHEBI_33356 | iron group element atom |
| http://purl.obolibrary.org/obo/CHEBI_33561 | d-block element atom |
| http://purl.obolibrary.org/obo/CHEBI_27081 | transition element atom |
| HP:0011238 | Prominent inferior crus of antihelix |
| HP:0011239 | Underdeveloped inferior crus of antihelix |
| HP:0011243 | Abnormality of inferior crus of antihelix |
| http://purl.obolibrary.org/obo/GO_0002678 | positive regulation of chronic inflammatory response |
| http://purl.obolibrary.org/obo/GO_0000018 | regulation of DNA recombination |
| http://purl.obolibrary.org/obo/GO_0002677 | negative regulation of chronic inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002676 | regulation of chronic inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002675 | positive regulation of acute inflammatory response |
| http://purl.obolibrary.org/obo/GO_0050729 | positive regulation of inflammatory response |
| http://purl.obolibrary.org/obo/GO_0000016 | Defective LCT does not hydrolyze Lac |
| http://purl.obolibrary.org/obo/GO_0004553 | ABHD10 hydrolyses MPAG |
| http://purl.obolibrary.org/obo/GO_0016798 | CS is cleaved from its proteoglycan |
| http://purl.obolibrary.org/obo/GO_2000469 | negative regulation of peroxidase activity |
| http://purl.obolibrary.org/obo/GO_0002674 | negative regulation of acute inflammatory response |
| http://purl.obolibrary.org/obo/GO_0050728 | negative regulation of inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002673 | regulation of acute inflammatory response |
| http://purl.obolibrary.org/obo/GO_0050727 | regulation of inflammatory response |
| http://purl.obolibrary.org/obo/GO_0000002 | mitochondrial genome maintenance |
| http://purl.obolibrary.org/obo/GO_2000470 | positive regulation of peroxidase activity |
| http://purl.obolibrary.org/obo/GO_2000468 | regulation of peroxidase activity |
| http://purl.obolibrary.org/obo/UBERON_0008529 | piriformis muscle |
| http://purl.obolibrary.org/obo/UBERON_0002000 | gluteal muscle |
| http://purl.obolibrary.org/obo/GO_0002690 | positive regulation of leukocyte chemotaxis |
| http://purl.obolibrary.org/obo/GO_0050921 | positive regulation of chemotaxis |
| http://purl.obolibrary.org/obo/GO_0002689 | negative regulation of leukocyte chemotaxis |
| http://purl.obolibrary.org/obo/GO_0050922 | negative regulation of chemotaxis |
| http://purl.obolibrary.org/obo/GO_0002688 | regulation of leukocyte chemotaxis |
| http://purl.obolibrary.org/obo/GO_0050920 | regulation of chemotaxis |
| http://purl.obolibrary.org/obo/UBERON_0008522 | nasal muscle |
| http://purl.obolibrary.org/obo/UBERON_0008523 | infrahyoid muscle |
| http://purl.obolibrary.org/obo/CHEBI_18608 | 5-methyltetrahydrofolate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_20612 | 5-methyltetrahydrofolate |
| http://purl.obolibrary.org/obo/CHEBI_25345 | methyltetrahydrofolate |
| http://purl.obolibrary.org/obo/CHEBI_67016 | tetrahydrofolate |
| http://purl.obolibrary.org/obo/CHEBI_67011 | folates |
| http://purl.obolibrary.org/obo/CHEBI_59874 | N-acyl-L-alpha-amino acid anion |
| http://purl.obolibrary.org/obo/GO_0000052 | citrulline metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_16004 | (R)-lactate |
| http://purl.obolibrary.org/obo/GO_0000070 | mitotic sister chromatid segregation |
| http://purl.obolibrary.org/obo/CHEBI_7044 | myoglobin |
| http://purl.obolibrary.org/obo/GO_0051607 | defense response to virus |
| http://purl.obolibrary.org/obo/GO_0002638 | negative regulation of immunoglobulin production |
| http://purl.obolibrary.org/obo/GO_0002639 | positive regulation of immunoglobulin production |
| http://purl.obolibrary.org/obo/GO_0002637 | regulation of immunoglobulin production |
| http://purl.obolibrary.org/obo/GO_0051608 | histamine transport |
| http://purl.obolibrary.org/obo/GO_0006812 | cation transport |
| http://purl.obolibrary.org/obo/GO_0006811 | ion transport |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4702 | GYPA (human) |
| http://purl.obolibrary.org/obo/GO_0002660 | positive regulation of peripheral tolerance induction |
| http://purl.obolibrary.org/obo/GO_0002654 | positive regulation of tolerance induction dependent upon immune response |
| http://purl.obolibrary.org/obo/GO_0002659 | negative regulation of peripheral tolerance induction |
| http://purl.obolibrary.org/obo/GO_0002653 | negative regulation of tolerance induction dependent upon immune response |
| http://purl.obolibrary.org/obo/GO_0002658 | regulation of peripheral tolerance induction |
| http://purl.obolibrary.org/obo/GO_0002652 | regulation of tolerance induction dependent upon immune response |
| http://purl.obolibrary.org/obo/GO_0002645 | positive regulation of tolerance induction |
| http://purl.obolibrary.org/obo/GO_0002644 | negative regulation of tolerance induction |
| http://purl.obolibrary.org/obo/GO_0002643 | regulation of tolerance induction |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0001963 | Abnormal speech discrimination |
| HP:0001962 | Palpitations |
| HP:0001960 | Hypokalemic metabolic alkalosis |
| HP:0200114 | Metabolic alkalosis |
| HP:0001978 | Extramedullary hematopoiesis |
| HP:0001976 | Reduced antithrombin III activity |
| HP:0001975 | Decreased platelet glycoprotein IIb-IIIa |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0001970 | Tubulointerstitial nephritis |
| HP:0001971 | Hypersplenism |
| HP:0025409 | Abnormal spleen physiology |
| HP:0011300 | Broad fingertip |
| HP:0001211 | Abnormal fingertip morphology |
| HP:0001989 | Fetal akinesia sequence |
| HP:0001558 | Decreased fetal movement |
| HP:0001557 | Prenatal movement abnormality |
| HP:0011301 | Absent foot |
| http://purl.obolibrary.org/obo/GO_0051589 | negative regulation of neurotransmitter transport |
| HP:0011302 | Long palm |
| HP:0011303 | Convex contour of sole |
| HP:0001988 | Recurrent hypoglycemia |
| http://purl.obolibrary.org/obo/PATO_0000033 | concentration of |
| http://purl.obolibrary.org/obo/GO_0051590 | positive regulation of neurotransmitter transport |
| http://purl.obolibrary.org/obo/GO_0051588 | regulation of neurotransmitter transport |
| HP:0001985 | Hypoketotic hypoglycemia |
| HP:0011305 | Partial absence of toe |
| HP:0001986 | Hypertonic dehydration |
| HP:0001983 | Reduced lymphocyte surface expression of CD43 |
| HP:0031383 | Abnormal lymphocyte surface marker expression |
| HP:0001984 | Intolerance to protein |
| HP:0012537 | Food intolerance |
| HP:0011307 | Splayed toes |
| HP:0011308 | Slender toe |
| HP:0001981 | Schistocytosis |
| HP:0011309 | Tapered toe |
| HP:0001982 | Sea-blue histiocytosis |
| HP:0001980 | Megaloblastic bone marrow |
| HP:0011310 | Bridged palmar crease |
| HP:0011311 | Sydney crease |
| HP:0011312 | Fused nails |
| HP:0011313 | Narrow nail |
| HP:0001998 | Neonatal hypoglycemia |
| http://purl.obolibrary.org/obo/PATO_0000025 | composition |
| HP:0001996 | Chronic metabolic acidosis |
| HP:0012468 | Chronic acidosis |
| HP:0011316 | Left unicoronal synostosis |
| HP:0001997 | Gout |
| HP:0011317 | Right unicoronal synostosis |
| HP:0011315 | Unicoronal synostosis |
| HP:0001994 | Renal Fanconi syndrome |
| HP:0011318 | Bicoronal synostosis |
| HP:0004440 | Coronal craniosynostosis |
| HP:0001995 | Hyperchloremic acidosis |
| HP:0011319 | Bilambdoid synostosis |
| HP:0500109 | Positive urine barbiturate test |
| HP:0001927 | Acanthocytosis |
| HP:0500107 | Isolated diastolic hypotension |
| HP:0500108 | Positive urine cocaine test |
| HP:0001923 | Reticulocytosis |
| HP:0004312 | Abnormal reticulocyte morphology |
| HP:0500105 | Decreased systolic blood pressure |
| http://purl.obolibrary.org/obo/GO_1904410 | negative regulation of secretory granule organization |
| HP:0500106 | Isolated systolic hypertension |
| HP:0004421 | Elevated systolic blood pressure |
| http://purl.obolibrary.org/obo/GO_1904411 | positive regulation of secretory granule organization |
| HP:0500104 | Decreased diastolic blood pressure |
| HP:0001922 | Vacuolated lymphocytes |
| http://purl.obolibrary.org/obo/GO_0051560 | mitochondrial calcium ion homeostasis |
| HP:0001929 | Reduced factor XI activity |
| HP:0001920 | Renal artery stenosis |
| HP:0008776 | Abnormal renal artery morphology |
| HP:0001937 | Microangiopathic hemolytic anemia |
| HP:0500116 | Positive blood barbiturate test |
| HP:0001934 | Persistent bleeding after trauma |
| HP:0001935 | Microcytic anemia |
| HP:0500115 | Increased stool urobilinogen concentration |
| HP:0500114 | Abnormal stool urobilinogen concentration |
| HP:0031685 | Abnormal stool composition |
| HP:0500112 | Positive urine amphetamine test |
| HP:0500113 | Positive urine opioid test |
| HP:0500110 | Positive urine cannabinoid test |
| HP:0500111 | Positive urine benzodiazepines test |
| http://purl.obolibrary.org/obo/PATO_0000047 | biological sex |
| http://purl.obolibrary.org/obo/GO_1904409 | regulation of secretory granule organization |
| http://purl.obolibrary.org/obo/PATO_0000050 | life span |
| HP:0001930 | Nonspherocytic hemolytic anemia |
| HP:0001931 | Hypochromic anemia |
| HP:0001949 | Hypokalemic alkalosis |
| HP:0001947 | Renal tubular acidosis |
| HP:0001944 | Dehydration |
| http://purl.obolibrary.org/obo/PATO_0000082 | persistence |
| http://purl.obolibrary.org/obo/PATO_0000078 | rhythm quality |
| HP:0001958 | Nonketotic hypoglycemia |
| HP:0001959 | Polydipsia |
| HP:0500138 | Hyperserinemia |
| HP:0012278 | Abnormal circulating serine concentration |
| HP:0001956 | Truncal obesity |
| HP:0001513 | Obesity |
| HP:0004324 | Increased body weight |
| HP:0500139 | Hypoprolinemia |
| HP:0500136 | Hypothreoninemia |
| HP:0001955 | Unexplained fevers |
| HP:0500134 | Hypertryptophanemia |
| HP:0500135 | Hypotryptophanemia |
| HP:0004365 | Abnormal circulating tryptophan concentration |
| HP:0500132 | Hypovalinemia |
| HP:0500133 | Hypotyrosinemia |
| HP:0001953 | Diabetic ketoacidosis |
| HP:0001950 | Respiratory alkalosis |
| HP:0001951 | Episodic ammonia intoxication |
| HP:0011363 | Abnormality of hair growth rate |
| HP:0011364 | White hair |
| HP:0011365 | Patchy hypopigmentation of hair |
| HP:0500149 | Hyperglutamatemia |
| HP:0011367 | Yellow nails |
| HP:0100643 | Abnormality of nail color |
| HP:0500147 | Hypoglutaminemia |
| HP:0011369 | Mongolian blue spot |
| HP:0500145 | Hypohistidinemia |
| HP:0500143 | Hypoleucinemia |
| HP:0500144 | Hypoisoleucinemia |
| HP:0500141 | Hypophenylalaninemia |
| HP:0500142 | Hypolysinemia |
| HP:0011360 | Acquired abnormal hair pattern |
| HP:0500140 | Decreased circulating hydroxyproline concentration |
| http://purl.obolibrary.org/obo/UBERON_0008459 | prezygapophysis of cervical vertebra |
| http://purl.obolibrary.org/obo/UBERON_0008456 | prezygapophysis of lumbar vertebra |
| http://purl.obolibrary.org/obo/UBERON_0008457 | prezygapophysis of sacral vertebra |
| HP:0011374 | Incomplete partition of the cochlea type I |
| HP:0011373 | Incomplete partition of the cochlea |
| HP:0008554 | Cochlear malformation |
| HP:0011375 | Cochlear aplasia |
| HP:0011377 | Aplasia of the vestibule |
| HP:0011378 | Hypoplasia of the vestibule of the inner ear |
| HP:0011379 | Dilated vestibule of the inner ear |
| HP:0500159 | Increased level of circulating aspartic acid |
| HP:0500158 | Abnormal circulating aspartic acid concentration |
| HP:0500156 | Hyperasparaginemia |
| HP:0500157 | Hypoasparaginemia |
| HP:0500154 | Hypoalaninemia |
| HP:0500155 | Abnormal circulating asparagine concentration |
| HP:0500152 | Hypocystinemia |
| HP:0500153 | Hyperargininemia |
| HP:0011371 | Recurrent viral skin infections |
| HP:0500150 | Hypoglutamatemia |
| HP:0011372 | Aplasia of the inner ear |
| HP:0500151 | Hypercystinemia |
| http://purl.obolibrary.org/obo/UBERON_0008461 | postzygapophysis of lumbar vertebra |
| http://purl.obolibrary.org/obo/UBERON_0008462 | postzygapophysis of cervical vertebra |
| http://purl.obolibrary.org/obo/UBERON_0008460 | prezygapophysis of thoracic vertebra |
| http://purl.obolibrary.org/obo/UBERON_0008463 | postzygapophysis of thoracic vertebra |
| HP:0011385 | Absent internal auditory canal |
| HP:0011386 | Narrow internal auditory canal |
| HP:0011384 | Abnormality of the internal auditory canal |
| HP:0011387 | Enlarged vestibular aqueduct |
| HP:0011388 | Enlarged cochlear aqueduct |
| HP:0500167 | Hypergastrinemia |
| HP:0500166 | Abnormal circulating gastrin level |
| HP:0500163 | Hypoornithinemia |
| HP:0012025 | Abnormal circulating ornithine concentration |
| HP:0011381 | Aplasia of the semicircular canal |
| HP:0500161 | Increased level of carnosine in blood |
| HP:0011382 | Hypoplasia of the semicircular canal |
| HP:0011383 | Enlarged semicircular canal |
| HP:0500162 | Decreased level of carnosine in blood |
| HP:0500160 | Abnormal circulating carnosine concentration |
| HP:0500170 | Abnormal concentration of acylcarnitine in the urine |
| HP:0011395 | Aplasia/Hypoplasia of the cochlea |
| HP:0008774 | Aplasia/Hypoplasia of the inner ear |
| HP:0011396 | Abnormality of the cochlear nerve |
| HP:0011398 | Central hypotonia |
| HP:0011399 | Tibialis atrophy |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0011393 | Aplasia of the vestibular nerve. |
| HP:0500173 | Reflex asystolic syncope |
| HP:0001279 | Syncope |
| HP:0011394 | Hypoplasia of the vestibular nerve |
| HP:0011392 | Abnormality of the vestibular nerve |
| HP:0009591 | Abnormality of the vestibulocochlear nerve |
| HP:0011391 | Morphological abnormality of the nerves of the inner ear |
| HP:0500181 | Hypertaurinemia |
| HP:0500182 | Hypotaurinemia |
| HP:0500180 | Abnormal circulating amino sulfonic acid concentration |
| HP:0011321 | Left unilambdoid synostosis |
| HP:0011322 | Right unilambdoid synostosis |
| HP:0011320 | Unilambdoid synostosis |
| HP:0004443 | Lambdoidal craniosynostosis |
| HP:0011323 | Cleft of chin |
| HP:0011325 | Pansynostosis |
| HP:0011324 | Multiple suture craniosynostosis |
| http://purl.obolibrary.org/obo/GO_0099550 | trans-synaptic signaling, modulating synaptic transmission |
| HP:0500193 | Increased CSF isoleucine concentration |
| HP:0500190 | Decreased CSF leucine concentration |
| HP:0500191 | Increased CSF leucine concentration |
| HP:0500189 | Abnormal CSF leucine concentration |
| http://purl.obolibrary.org/obo/GO_0099547 | regulation of translation at synapse, modulating synaptic transmission |
| http://purl.obolibrary.org/obo/GO_0050804 | modulation of chemical synaptic transmission |
| http://purl.obolibrary.org/obo/GO_0099177 | regulation of trans-synaptic signaling |
| HP:0011326 | Anterior plagiocephaly |
| HP:0011327 | Posterior plagiocephaly |
| HP:0001357 | Plagiocephaly |
| HP:0011330 | Metopic synostosis |
| HP:0011331 | Hemifacial atrophy |
| HP:0011332 | Hemifacial hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0008429 | cervical vertebral foramen |
| HP:0011333 | Asymmetric crying face |
| HP:0011334 | Facial shape deformation |
| HP:0011335 | Frontal hirsutism |
| HP:0011336 | Bitemporal forceps marks |
| HP:0500198 | Decreased CSF glutamine concentration |
| HP:0500197 | Increased CSF glutamine concentration |
| HP:0500196 | Abnormal CSF glutamine concentration |
| HP:0500194 | Decreased CSF isoleucine concentration |
| HP:0500192 | Abnormal CSF isoleucine concentration |
| HP:0011337 | Abnormality of mouth size |
| http://purl.obolibrary.org/obo/UBERON_0008425 | mammary ridge |
| http://purl.obolibrary.org/obo/GO_1904480 | positive regulation of intestinal absorption |
| http://purl.obolibrary.org/obo/UBERON_0008420 | buccal epithelium |
| HP:0011340 | Incomplete cleft of the upper lip |
| HP:0000204 | Cleft upper lip |
| HP:0011341 | Long upper lip |
| HP:0011342 | Mild global developmental delay |
| HP:0011343 | Moderate global developmental delay |
| HP:0011344 | Severe global developmental delay |
| HP:0001263 | Global developmental delay |
| HP:0011345 | Moderate expressive language delay |
| HP:0011346 | Mild expressive language delay |
| HP:0002474 | Expressive language delay |
| HP:0011347 | Abnormality of ocular abduction |
| http://purl.obolibrary.org/obo/GO_1904479 | negative regulation of intestinal absorption |
| http://purl.obolibrary.org/obo/GO_1904478 | regulation of intestinal absorption |
| http://purl.obolibrary.org/obo/GO_0060457 | negative regulation of digestive system process |
| http://purl.obolibrary.org/obo/UBERON_0008436 | thoracic vertebral arch |
| HP:0011349 | Abducens palsy |
| HP:0011348 | Abnormality of the sixth cranial nerve |
| http://purl.obolibrary.org/obo/UBERON_0008434 | cervical vertebral arch |
| http://purl.obolibrary.org/obo/UBERON_0008435 | vertebral arch of sacral segment |
| http://purl.obolibrary.org/obo/UBERON_0008432 | thoracic vertebral foramen |
| http://purl.obolibrary.org/obo/UBERON_0008433 | lumbar vertebral arch |
| http://purl.obolibrary.org/obo/UBERON_0008430 | lumbar vertebral foramen |
| http://purl.obolibrary.org/obo/UBERON_0008431 | sacral foramen |
| HP:0011351 | Moderate receptive language delay |
| HP:0011352 | Severe receptive language delay |
| HP:0011353 | Arterial intimal fibrosis |
| HP:0011358 | Generalized hypopigmentation of hair |
| HP:0011350 | Mild receptive language delay |
| HP:0011359 | Dry hair |
| http://purl.obolibrary.org/obo/PR_P00450 | ceruloplasmin (human) |
| http://purl.obolibrary.org/obo/GO_0002562 | somatic diversification of immune receptors via germline recombination within a single locus |
| http://purl.obolibrary.org/obo/GO_0002200 | somatic diversification of immune receptors |
| http://purl.obolibrary.org/obo/GO_0016444 | somatic cell DNA recombination |
| http://purl.obolibrary.org/obo/GO_0006310 | DNA recombination |
| http://purl.obolibrary.org/obo/GO_0002544 | chronic inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002548 | monocyte chemotaxis |
| http://purl.obolibrary.org/obo/GO_0030595 | leukocyte chemotaxis |
| http://purl.obolibrary.org/obo/GO_0060326 | cell chemotaxis |
| http://purl.obolibrary.org/obo/GO_0006935 | chemotaxis |
| http://purl.obolibrary.org/obo/GO_0042330 | taxis |
| http://www.informatics.jax.org/marker/MGI:96677 | Kit (mouse) |
| http://purl.obolibrary.org/obo/GO_0002574 | thrombocyte differentiation |
| http://www.informatics.jax.org/marker/MGI:96683 | Kdr (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_137682 | methylhistidine |
| http://purl.obolibrary.org/obo/GO_2000379 | positive regulation of reactive oxygen species metabolic process |
| http://purl.obolibrary.org/obo/GO_2000378 | negative regulation of reactive oxygen species metabolic process |
| http://purl.obolibrary.org/obo/GO_2000377 | regulation of reactive oxygen species metabolic process |
| http://purl.obolibrary.org/obo/PR_000018773 | lymphocyte antigen 6A-2/6E-1, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000018775 | lymphocyte antigen 6C2, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_P00439 | phenylalanine-4-hydroxylase (human) |
| http://purl.obolibrary.org/obo/GO_0002520 | immune system development |
| http://purl.obolibrary.org/obo/GO_0002504 | http://purl.obolibrary.org/obo/GO_0002504 |
| http://purl.obolibrary.org/obo/PR_000018704 | complement component C1q receptor, signal peptide removed form |
| http://purl.obolibrary.org/obo/GO_0002507 | tolerance induction |
| http://purl.obolibrary.org/obo/GO_0002534 | cytokine production involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002539 | prostaglandin production involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002538 | arachidonic acid metabolite production involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002536 | respiratory burst involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002532 | production of molecular mediator involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002679 | respiratory burst involved in defense response |
| http://purl.obolibrary.org/obo/GO_0045730 | respiratory burst |
| http://purl.obolibrary.org/obo/GO_0002523 | leukocyte migration involved in inflammatory response |
| http://purl.obolibrary.org/obo/GO_0002522 | leukocyte migration involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002526 | acute inflammatory response |
| http://purl.obolibrary.org/obo/GO_0006954 | inflammatory response |
| HP:0011401 | Delayed peripheral myelination |
| HP:0012448 | Delayed myelination |
| HP:0011402 | Demyelinating sensory neuropathy |
| HP:0011404 | Lethal short-trunk short stature |
| HP:0011405 | Childhood onset short-limb short stature |
| HP:0011406 | Infancy onset short-trunk short stature |
| HP:0003521 | Disproportionate short-trunk short stature |
| HP:0011407 | Proportionate tall stature |
| HP:0000098 | Tall stature |
| HP:0011408 | Moderate intrauterine growth retardation |
| HP:0001511 | Intrauterine growth retardation |
| HP:0011411 | Forceps delivery |
| HP:0011412 | Ventouse delivery |
| HP:0011413 | Shoulder dystocia |
| http://purl.obolibrary.org/obo/PATO_0000125 | mass |
| http://purl.obolibrary.org/obo/CHEBI_43474 | hydrogenphosphate |
| http://purl.obolibrary.org/obo/CHEBI_35780 | phosphate ion |
| http://purl.obolibrary.org/obo/CHEBI_33461 | phosphorus oxoanion |
| http://purl.obolibrary.org/obo/CHEBI_33459 | pnictogen oxoanion |
| HP:0011414 | Hydropic placenta |
| HP:0006267 | Large placenta |
| HP:0011415 | Calcified placenta |
| HP:0011416 | Placental infarction |
| HP:0011417 | Long umbilical cord |
| HP:0011419 | Placental abruption |
| HP:0500208 | Increased CSF lysine concentration |
| HP:0500207 | Decreased CSF lysine concentration |
| HP:0500206 | Abnormal CSF lysine concentration |
| HP:0011421 | Death in adolescence |
| HP:0011420 | Age of death |
| HP:0500204 | Decreased CSF arginine concentration |
| HP:0011423 | Hyperchloremia |
| HP:0500203 | Increased CSF arginine concentration |
| HP:0500202 | Abnormal CSF arginine concentration |
| HP:0011424 | Increased serum zinc |
| HP:0500200 | Increased CSF glutamate concentration |
| HP:0500201 | Decreased CSF glutamate concentration |
| HP:0500199 | Abnormal CSF glutamate concentration |
| HP:0500195 | Abnormal CSF glutamine family amino acid concentration |
| HP:0011426 | Fetal choroid plexus cysts |
| HP:0011427 | Enlarged fetal cisterna magna |
| HP:0011428 | Short fetal femur length |
| HP:0011429 | Short fetal humerus length |
| HP:0011430 | Hypoplasia of fetal nasal bone |
| HP:0500217 | Increased CSF aspartate concentration |
| HP:0011431 | Fetal fifth finger clinodactyly |
| HP:0011432 | High maternal serum alpha-fetoprotein |
| HP:0500216 | Abnormal CSF aspartate concentration |
| HP:0011433 | High maternal serum chorionic gonadotropin |
| HP:0500213 | Decreased CSF threonine concentration |
| HP:0011434 | Low maternal serum chorionic gonadotropin |
| HP:0011435 | Low maternal serum PAPP-A |
| HP:0500212 | Increased CSF threonine concentration |
| HP:0500211 | Abnormal CSF threonine concentration |
| HP:0500210 | Increased CSF methionine concentration |
| HP:0500209 | Abnormal CSF methionine concentration |
| HP:0500205 | Abnormal CSF aspartate family amino acid concentration |
| HP:0011437 | Maternal autoimmune disease |
| HP:0011438 | Maternal teratogenic exposure |
| HP:0031437 | Pregnancy exposure |
| HP:0011439 | Anesthetic-induced rhabdomylosis |
| HP:0500228 | Decreased CSF serine concentration |
| http://purl.obolibrary.org/obo/GO_0051447 | negative regulation of meiotic cell cycle |
| HP:0500227 | Increased CSF serine concentration |
| HP:0500226 | Abnormal CSF serine concentration |
| http://purl.obolibrary.org/obo/GO_0051446 | positive regulation of meiotic cell cycle |
| http://purl.obolibrary.org/obo/GO_0045787 | positive regulation of cell cycle |
| HP:0500224 | Decreased CSF phenylalanine concentration |
| HP:0500222 | Increased CSF tryptophan concentration |
| HP:0500218 | Abnormal CSF tryptophan concentration |
| HP:0500223 | Increased CSF phenylalanine concentration |
| HP:0500215 | Abnormal CSF phenylalanine concentration |
| HP:0500220 | Increased CSF tyrosine concentration |
| http://purl.obolibrary.org/obo/GO_0051445 | regulation of meiotic cell cycle |
| HP:0500221 | Decreased CSF tyrosine concentration |
| HP:0500219 | Abnormal CSF tyrosine concentration |
| HP:0500239 | Increased CSF albumin concentration |
| HP:0002922 | Increased CSF protein |
| HP:0500237 | Decreased CSF histidine concentration |
| HP:0500238 | Abnormal CSF albumin concentration |
| HP:0500236 | Increased CSF histidine concentration |
| HP:0500235 | Abnormal CSF histidine concentration |
| HP:0500214 | Abnormal CSF aromatic amino acid concentration |
| HP:0500233 | Increased CSF alanine concentration |
| HP:0500234 | Decreased CSF alanine concentration |
| HP:0500232 | Abnormal CSF alanine concentration |
| HP:0500231 | Abnormal CSF pyruvate family amino acid concentration |
| http://purl.obolibrary.org/obo/PATO_0000165 | time |
| HP:0500230 | Increased CSF glycine concentration |
| HP:0500229 | Abnormal CSF glycine concentration |
| HP:0500225 | Abnormal CSF serine family amino acid concentration |
| HP:0500248 | Increased CSF alpha-aminobutyrate concentration |
| HP:0500246 | Increased CSF citrulline concentration |
| HP:0500247 | Abnormal CSF alpha-aminobutyrate concentration |
| HP:0500244 | Increased CSF ornithine concentration |
| HP:0500245 | Abnormal CSF citrulline concentration |
| HP:0500242 | Increased CSF homocarnosine concentration |
| HP:0500187 | Increased CSF valine concentration |
| HP:0500243 | Abnormal CSF ornithine concentration |
| HP:0500240 | Abnormal CSF carnosine concentration |
| HP:0500241 | Abnormal CSF homocarnosine concentration |
| HP:0500257 | Increased urine isobutyrylglycine concentration |
| HP:0500255 | Increased level of hexanoylglycine in urine |
| HP:0500256 | Abnormal urine isobutyrylglycine concentration |
| HP:0500253 | Increased level of gamma-aminobutyric acid in urine |
| HP:0500254 | Abnormal urine hexanoylglycine concentration |
| HP:0500252 | Increased urine sebacic acid concentration |
| HP:0500251 | Abnormal urine sebacic acid concentration |
| http://purl.obolibrary.org/obo/PATO_0000188 | coordination |
| HP:0500250 | Increased circulating ethanolamine concentration |
| HP:0500249 | Abnormal circulating ethanolamine concentration |
| HP:0011483 | Anterior synechiae of the anterior chamber |
| HP:0011484 | Posterior synechiae of the anterior chamber |
| HP:0011485 | Corneolenticular adhesion |
| HP:0011487 | Increased corneal thickness |
| HP:0011486 | Abnormality of corneal thickness |
| HP:0000485 | Megalocornea |
| HP:0500266 | Decreased proportion of CD8-positive, alpha-beta TEMRA T cells |
| HP:0500264 | Increased helper T cell proportion |
| HP:0500265 | Increased proportion of CD8-positive, alpha-beta TEMRA T cells |
| HP:0500262 | Atrichia |
| HP:0011480 | Unilateral microphthalmos |
| HP:0500260 | Triggered by head trauma |
| HP:0031135 | Triggered by physical trauma |
| HP:0500261 | Triggered by anesthetics |
| HP:0025204 | Triggered by |
| HP:0500270 | Increased proportion of gamma-delta T cells |
| http://purl.obolibrary.org/obo/UBERON_0008338 | plantar part of pes |
| http://purl.obolibrary.org/obo/UBERON_0008837 | palmar/plantar part of autopod |
| http://purl.obolibrary.org/obo/UBERON_0008331 | clitoral smooth muscle |
| HP:0011496 | Corneal neovascularization |
| HP:0011497 | Iris neovascularization |
| HP:0500273 | Increased proportion of immature gamma-delta T cells |
| HP:0011490 | Abnormal Descemet membrane morphology |
| HP:0500274 | Decreased proportion of immature gamma-delta T cells |
| HP:0500271 | Decreased proportion of gamma-delta T cells |
| HP:0500269 | Abnormal proportion of gamma-delta T cells |
| HP:0500272 | Abnormal proportion of immature gamma-delta T cells |
| http://purl.obolibrary.org/obo/UBERON_0008340 | nasal bridge |
| http://purl.obolibrary.org/obo/UBERON_0008341 | columella nasi |
| http://purl.obolibrary.org/obo/PR_000016043 | T-cell acute lymphocytic leukemia protein 1 |
| http://purl.obolibrary.org/obo/UBERON_0035927 | sulcus of parietal lobe |
| http://purl.obolibrary.org/obo/UBERON_0008346 | duodenal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0008344 | intestinal villus of ileum |
| http://purl.obolibrary.org/obo/UBERON_0008345 | ileal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0011997 | coelom |
| http://purl.obolibrary.org/obo/UBERON_0008342 | intestinal villus of duodenum |
| http://purl.obolibrary.org/obo/UBERON_0008343 | intestinal villus of jejunum |
| http://purl.obolibrary.org/obo/UBERON_0008367 | breast epithelium |
| HP:0011440 | Alcohol-induced rhabdomyolysis |
| HP:0011444 | Decorticate rigidity |
| HP:0011445 | Athetoid cerebral palsy |
| HP:0100021 | Cerebral palsy |
| http://www.informatics.jax.org/marker/MGI:105979 | G6pdx (mouse) |
| HP:0011447 | Hyposegmentation of neutrophil nuclei |
| HP:0011448 | Ankle clonus |
| HP:0011449 | Knee clonus |
| HP:0011451 | Congenital microcephaly |
| HP:0011453 | Abnormality of the incus |
| HP:0011455 | Absent malleus |
| HP:0011454 | Abnormality of the malleus |
| HP:0011456 | Absent stapes |
| http://purl.obolibrary.org/obo/UBERON_0008307 | heart endothelium |
| HP:0011457 | Loss of eyelashes |
| http://www.informatics.jax.org/marker/MGI:96778 | Lgals3 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0011956 | right hepatic vein |
| http://purl.obolibrary.org/obo/UBERON_0011955 | left hepatic vein |
| http://purl.obolibrary.org/obo/UBERON_0035965 | wall of blood vessel |
| HP:0011459 | Esophageal carcinoma |
| HP:0100751 | Esophageal neoplasm |
| http://purl.obolibrary.org/obo/UBERON_0011953 | stomach glandular region |
| HP:0011461 | Fetal onset |
| HP:0011462 | Young adult onset |
| HP:0003581 | Adult onset |
| HP:0011463 | Childhood onset |
| HP:0011465 | Duodenal aganglionosis |
| HP:0011464 | Aganglionosis of the small intestine |
| HP:0011467 | Absent gallbladder |
| HP:0011468 | Facial tics |
| HP:0011460 | Embryonal onset |
| http://purl.obolibrary.org/obo/UBERON_0011969 | mesotarsal joint |
| http://purl.obolibrary.org/obo/UBERON_0011980 | crurotarsal joint |
| http://purl.obolibrary.org/obo/UBERON_0011968 | radio-carpal joint |
| http://purl.obolibrary.org/obo/UBERON_0011961 | articular capsule of hip joint |
| HP:0011469 | Nasal regurgitation |
| http://purl.obolibrary.org/obo/UBERON_0011960 | articular capsule of glenohumeral joint |
| http://purl.obolibrary.org/obo/UBERON_0035956 | epididymal lumen |
| http://purl.obolibrary.org/obo/UBERON_0011963 | talocalcaneonavicular joint |
| http://purl.obolibrary.org/obo/UBERON_0011962 | transverse tarsal joint |
| http://purl.obolibrary.org/obo/UBERON_0008310 | nasopharyngeal gland |
| http://purl.obolibrary.org/obo/PR_000004089 | aldehyde oxidase |
| HP:0011473 | Villous atrophy |
| HP:0011472 | Abnormality of small intestinal villus morphology |
| HP:0011474 | Childhood onset sensorineural hearing impairment |
| HP:0011475 | Persistent stapedial artery |
| HP:0011476 | Profound sensorineural hearing impairment |
| HP:0012715 | Profound hearing impairment |
| HP:0011477 | Upbeat nystagmus |
| HP:0010544 | Vertical nystagmus |
| HP:0011478 | True anophthalmia |
| HP:0000528 | Anophthalmia |
| http://purl.obolibrary.org/obo/GO_0051494 | negative regulation of cytoskeleton organization |
| HP:0011470 | Nasogastric tube feeding in infancy |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| http://purl.obolibrary.org/obo/GO_0051495 | positive regulation of cytoskeleton organization |
| http://purl.obolibrary.org/obo/GO_0051493 | regulation of cytoskeleton organization |
| http://purl.obolibrary.org/obo/UBERON_0011979 | epiphysis of distal phalanx of manus |
| http://purl.obolibrary.org/obo/UBERON_0011978 | epiphysis of middle phalanx of manus |
| http://purl.obolibrary.org/obo/UBERON_0011977 | epiphysis of proximal phalanx of manus |
| http://purl.obolibrary.org/obo/UBERON_0004387 | epiphysis of phalanx of manus |
| http://purl.obolibrary.org/obo/UBERON_0011972 | medial ligament of ankle joint |
| http://purl.obolibrary.org/obo/UBERON_0011971 | calcaneofibular ligament |
| http://purl.obolibrary.org/obo/UBERON_0008324 | erectile tissue |
| http://purl.obolibrary.org/obo/UBERON_0011970 | talofibular ligament |
| http://purl.obolibrary.org/obo/UBERON_0008322 | deep artery of clitoris |
| http://purl.obolibrary.org/obo/UBERON_0011976 | epiphysis of distal phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0011975 | epiphysis of middle phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0008320 | common penile artery |
| http://purl.obolibrary.org/obo/UBERON_0036269 | penis blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0011974 | epiphysis of proximal phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0008321 | deep artery of penis |
| http://purl.obolibrary.org/obo/GO_0000262 | mitochondrial chromosome |
| http://purl.obolibrary.org/obo/PR_P12319 | high affinity immunoglobulin epsilon receptor subunit alpha (human) |
| http://purl.obolibrary.org/obo/PR_000007431 | high affinity immunoglobulin epsilon receptor subunit alpha |
| http://purl.obolibrary.org/obo/UBERON_0011918 | line of Schwalbe |
| http://purl.obolibrary.org/obo/GO_2000216 | positive regulation of proline metabolic process |
| http://purl.obolibrary.org/obo/GO_2000215 | negative regulation of proline metabolic process |
| http://purl.obolibrary.org/obo/GO_2000214 | regulation of proline metabolic process |
| http://purl.obolibrary.org/obo/PR_000028409 | PR:000028409 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P08514 | integrin alpha-IIb (human) |
| http://purl.obolibrary.org/obo/PR_000020328 | integrin alpha-IIb, signal peptide removed form |
| http://purl.obolibrary.org/obo/UBERON_0011919 | yolk sac blood island |
| http://purl.obolibrary.org/obo/UBERON_0011922 | cochlear basement membrane |
| http://purl.obolibrary.org/obo/UBERON_0011927 | preganglionic sympathetic fiber |
| http://purl.obolibrary.org/obo/UBERON_0011921 | connecting stalk blood islands |
| http://purl.obolibrary.org/obo/UBERON_0010303 | extraembryonic epithelium |
| http://purl.obolibrary.org/obo/PR_000028418 | CD4 molecule, signal peptide removed form (human) |
| http://purl.obolibrary.org/obo/PR_P01730 | T-cell surface glycoprotein CD4 (human) |
| http://purl.obolibrary.org/obo/PR_000018304 | CD4 molecule, signal peptide removed form |
| http://purl.obolibrary.org/obo/UBERON_0011932 | pilosebaceous unit |
| http://purl.obolibrary.org/obo/UBERON_0011931 | nasal hair |
| http://purl.obolibrary.org/obo/UBERON_0010171 | strand of hair of face |
| http://purl.obolibrary.org/obo/UBERON_0011930 | preganglionic parasympathetic fiber |
| http://purl.obolibrary.org/obo/UBERON_0011925 | preganglionic autonomic fiber |
| http://purl.obolibrary.org/obo/UBERON_0003041 | trigeminal nerve fibers |
| http://purl.obolibrary.org/obo/UBERON_0006134 | nerve fiber |
| http://purl.obolibrary.org/obo/CHEBI_422 | (S)-lactic acid |
| http://purl.obolibrary.org/obo/CHEBI_17375 | (2S)-2-hydroxy monocarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_78320 | 2-hydroxypropanoic acid |
| http://purl.obolibrary.org/obo/PR_Q8R059 | UDP-glucose 4-epimerase (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_16235 | guanine |
| http://purl.obolibrary.org/obo/CHEBI_20702 | 2-aminopurines |
| http://purl.obolibrary.org/obo/CHEBI_26386 | purine nucleobase |
| http://purl.obolibrary.org/obo/CHEBI_18282 | nucleobase |
| http://purl.obolibrary.org/obo/CHEBI_25810 | oxopurine |
| http://purl.obolibrary.org/obo/GO_2000268 | positive regulation of blood coagulation, intrinsic pathway |
| http://purl.obolibrary.org/obo/GO_2000267 | negative regulation of blood coagulation, intrinsic pathway |
| http://purl.obolibrary.org/obo/GO_2000266 | regulation of blood coagulation, intrinsic pathway |
| http://purl.obolibrary.org/obo/GO_2000265 | positive regulation of blood coagulation, extrinsic pathway |
| http://purl.obolibrary.org/obo/GO_2000264 | negative regulation of blood coagulation, extrinsic pathway |
| http://purl.obolibrary.org/obo/GO_2000273 | positive regulation of signaling receptor activity |
| http://purl.obolibrary.org/obo/GO_2000272 | negative regulation of signaling receptor activity |
| http://purl.obolibrary.org/obo/CHEBI_16247 | phospholipid |
| http://purl.obolibrary.org/obo/GO_2000253 | positive regulation of feeding behavior |
| http://purl.obolibrary.org/obo/GO_2000263 | regulation of blood coagulation, extrinsic pathway |
| http://purl.obolibrary.org/obo/GO_2000262 | positive regulation of blood coagulation, common pathway |
| http://purl.obolibrary.org/obo/GO_2000259 | positive regulation of protein activation cascade |
| http://purl.obolibrary.org/obo/GO_2000261 | negative regulation of blood coagulation, common pathway |
| http://purl.obolibrary.org/obo/GO_2000258 | negative regulation of protein activation cascade |
| http://purl.obolibrary.org/obo/GO_2000260 | regulation of blood coagulation, common pathway |
| http://purl.obolibrary.org/obo/GO_2000257 | regulation of protein activation cascade |
| http://purl.obolibrary.org/obo/PR_P26952 | interleukin-3 receptor subunit alpha (mouse) |
| http://purl.obolibrary.org/obo/GO_0048240 | sperm capacitation |
| http://purl.obolibrary.org/obo/GO_0002830 | positive regulation of type 2 immune response |
| http://purl.obolibrary.org/obo/PR_Q07108 | early activation antigen CD69 (human) |
| http://purl.obolibrary.org/obo/PR_000001343 | CD69 molecule |
| http://purl.obolibrary.org/obo/GO_0051873 | killing by host of symbiont cells |
| http://purl.obolibrary.org/obo/GO_0098542 | defense response to other organism |
| http://purl.obolibrary.org/obo/GO_0006952 | defense response |
| http://purl.obolibrary.org/obo/GO_0051883 | killing of cells in other organism involved in symbiotic interaction |
| http://purl.obolibrary.org/obo/GO_0031640 | killing of cells of other organism |
| http://purl.obolibrary.org/obo/GO_0001906 | cell killing |
| http://purl.obolibrary.org/obo/GO_0002829 | negative regulation of type 2 immune response |
| http://purl.obolibrary.org/obo/GO_0002828 | regulation of type 2 immune response |
| http://purl.obolibrary.org/obo/GO_0014832 | urinary bladder smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0051851 | modulation by host of symbiont process |
| http://purl.obolibrary.org/obo/GO_0014827 | intestine smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0014831 | gastro-intestinal system smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0014821 | phasic smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0048209 | regulation of vesicle targeting, to, from or within Golgi |
| http://purl.obolibrary.org/obo/GO_0060627 | regulation of vesicle-mediated transport |
| http://purl.obolibrary.org/obo/GO_0014861 | regulation of skeletal muscle contraction via regulation of action potential |
| http://purl.obolibrary.org/obo/GO_0098900 | regulation of action potential |
| http://purl.obolibrary.org/obo/GO_0042391 | regulation of membrane potential |
| http://purl.obolibrary.org/obo/GO_0014819 | regulation of skeletal muscle contraction |
| http://purl.obolibrary.org/obo/GO_0006942 | regulation of striated muscle contraction |
| http://purl.obolibrary.org/obo/GO_0006937 | regulation of muscle contraction |
| http://purl.obolibrary.org/obo/GO_0090257 | regulation of muscle system process |
| http://purl.obolibrary.org/obo/GO_0014848 | urinary tract smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0002887 | negative regulation of myeloid leukocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0000228 | nuclear chromosome |
| http://purl.obolibrary.org/obo/GO_0000229 | cytoplasmic chromosome |
| http://purl.obolibrary.org/obo/GO_0005694 | chromosome |
| http://purl.obolibrary.org/obo/GO_0002888 | positive regulation of myeloid leukocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002886 | regulation of myeloid leukocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0051818 | disruption of cells of other organism involved in symbiotic interaction |
| http://purl.obolibrary.org/obo/GO_0051817 | modulation of process of other organism involved in symbiotic interaction |
| HP:0011520 | Deuteranomaly |
| HP:0011521 | Deuteranopia |
| HP:0011522 | Protanopia |
| HP:0000642 | Red-green dyschromatopsia |
| HP:0011523 | Iris cyst |
| http://purl.obolibrary.org/obo/PATO_0000261 | maturity |
| HP:0011524 | Iris melanoma |
| HP:0011525 | Iris nevus |
| HP:0011527 | Lentiglobus |
| HP:0011528 | Solitary congenital hypertrophy of retinal pigment epithelium |
| HP:0011529 | Multiple bilateral congenital hypertrophy of retinal pigment epithelium |
| http://purl.obolibrary.org/obo/UBERON_0035882 | sphenomaxillary suture |
| http://purl.obolibrary.org/obo/UBERON_0035881 | ethmoidomaxillary suture |
| HP:0011530 | Retinal hole |
| HP:0011532 | Subretinal exudate |
| HP:0011533 | Snowflake vitreoretinal degeneration |
| http://purl.obolibrary.org/obo/GO_0048193 | Golgi vesicle transport |
| http://purl.obolibrary.org/obo/GO_0016192 | vesicle-mediated transport |
| HP:0011536 | Right atrial isomerism |
| HP:0031855 | Right isomerism |
| HP:0011537 | Left atrial isomerism |
| HP:0031854 | Left Isomerism |
| HP:0031853 | Isomerism |
| HP:0011538 | Atrial situs inversus |
| http://purl.obolibrary.org/obo/GO_0099738 | cell cortex region |
| http://purl.obolibrary.org/obo/GO_0005938 | cell cortex |
| http://purl.obolibrary.org/obo/UBERON_0035884 | maxillary-premaxillary suture |
| http://purl.obolibrary.org/obo/UBERON_2002260 | premaxillary-maxillary joint |
| http://purl.obolibrary.org/obo/UBERON_2001950 | inter-premaxillary joint |
| HP:0011539 | Atrial situs ambiguous |
| HP:0011535 | Abnormal atrial arrangement |
| http://purl.obolibrary.org/obo/UBERON_0035883 | lacrimomaxillary suture |
| HP:0011542 | Criss-cross atrioventricular valves with superior-inferior ventricles |
| HP:0011541 | Criss-cross atrioventricular valves |
| HP:0011543 | Superior-inferior ventricles without criss-cross atrioventricular valves |
| HP:0011544 | L-looping of the right ventricle |
| http://purl.obolibrary.org/obo/GO_1904676 | negative regulation of somatic stem cell division |
| http://purl.obolibrary.org/obo/GO_1904677 | positive regulation of somatic stem cell division |
| http://purl.obolibrary.org/obo/GO_1904675 | regulation of somatic stem cell division |
| http://purl.obolibrary.org/obo/PATO_0000279 | male fertility |
| http://purl.obolibrary.org/obo/GO_1902018 | negative regulation of cilium assembly |
| http://purl.obolibrary.org/obo/PATO_0000277 | female fertility |
| http://purl.obolibrary.org/obo/GO_1902017 | regulation of cilium assembly |
| http://purl.obolibrary.org/obo/PATO_0000274 | fertility |
| http://purl.obolibrary.org/obo/PATO_0001434 | reproductive quality |
| http://purl.obolibrary.org/obo/UBERON_0035879 | frontomaxillary suture |
| HP:0011548 | Absent right sided atrioventricular connection |
| HP:0011549 | Univentricular heart with absent left sided atrioventricular connection |
| http://purl.obolibrary.org/obo/GO_0120054 | intestinal motility |
| HP:0011550 | Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection |
| HP:0011551 | Right sided atrium to left ventricle and absent left sided atrioventricular connection |
| HP:0011547 | Absent left sided atrioventricular connection |
| http://purl.obolibrary.org/obo/GO_0120034 | positive regulation of plasma membrane bounded cell projection assembly |
| http://purl.obolibrary.org/obo/GO_0031346 | positive regulation of cell projection organization |
| HP:0011552 | Ambiguous atrioventricular connection |
| HP:0011553 | Discordant atrioventricular connection |
| HP:0011555 | Double inlet left ventricle |
| HP:0011556 | Double inlet right ventricle |
| HP:0011558 | Double inlet to single ventricle with common atrioventricular orifice |
| HP:0011559 | Double inlet to single ventricle with two atrioventricular valves |
| HP:0011557 | Double inlet to single ventricle of indeterminate morphology |
| HP:0011554 | Double inlet atrioventricular connection |
| http://purl.obolibrary.org/obo/PATO_0000297 | arrested |
| http://purl.obolibrary.org/obo/GO_0061116 | ductus venosus closure |
| http://purl.obolibrary.org/obo/UBERON_0008256 | left clavicle |
| http://purl.obolibrary.org/obo/UBERON_0008255 | right clavicle |
| http://purl.obolibrary.org/obo/UBERON_0008266 | periodontal ligament |
| HP:0011500 | Polycoria |
| HP:0011501 | Anterior lenticonus |
| http://purl.obolibrary.org/obo/GO_0051784 | negative regulation of nuclear division |
| http://purl.obolibrary.org/obo/GO_0051785 | positive regulation of nuclear division |
| http://purl.obolibrary.org/obo/GO_0051782 | negative regulation of cell division |
| http://purl.obolibrary.org/obo/GO_0051781 | positive regulation of cell division |
| http://purl.obolibrary.org/obo/CHEBI_545959 | homovanillic acid |
| HP:0011502 | Posterior lenticonus |
| HP:0001142 | Lenticonus |
| HP:0011526 | Abnormality of lens shape |
| HP:0011503 | Aplasia of the fovea |
| HP:0011504 | Bull's eye maculopathy |
| HP:0011505 | Cystoid macular edema |
| HP:0011506 | Choroidal neovascularization |
| HP:0011507 | Macular flecks |
| HP:0011508 | Macular hole |
| HP:0011511 | Macular schisis |
| http://purl.obolibrary.org/obo/GO_0048137 | spermatocyte division |
| http://purl.obolibrary.org/obo/UBERON_0008281 | tooth bud |
| HP:0011513 | Retinal cavernous angioma |
| HP:0011515 | Abnormal stereopsis |
| HP:0011514 | Abnormality of binocular vision |
| HP:0011516 | Achromatopsia |
| HP:0011518 | Dichromacy |
| HP:0011519 | Anomalous trichromacy |
| http://purl.obolibrary.org/obo/UBERON_0035819 | abdominopelvic cavity |
| http://purl.obolibrary.org/obo/UBERON_0035815 | paracardial fat |
| http://purl.obolibrary.org/obo/UBERON_0011862 | pulmonary collagen fibril |
| http://purl.obolibrary.org/obo/UBERON_0011861 | aorta collagen fibril |
| http://purl.obolibrary.org/obo/UBERON_0011865 | corneal stroma collagen fibril |
| http://purl.obolibrary.org/obo/UBERON_0011864 | tendon collagen fibril |
| http://purl.obolibrary.org/obo/UBERON_0011863 | bone collagen fibril |
| http://purl.obolibrary.org/obo/UBERON_0011860 | collection of collagen fibrils |
| http://purl.obolibrary.org/obo/UBERON_0008229 | craniocervical region musculature |
| http://purl.obolibrary.org/obo/CHEBI_28115 | methylcobalamin |
| http://purl.obolibrary.org/obo/CHEBI_140785 | alkylcob(III)alamin |
| http://purl.obolibrary.org/obo/CHEBI_23333 | cob(III)alamins |
| http://purl.obolibrary.org/obo/CHEBI_23334 | cobalamins |
| http://purl.obolibrary.org/obo/CHEBI_23341 | cobamides |
| http://purl.obolibrary.org/obo/CHEBI_23390 | cobalt-corrinoid hexaamide |
| http://purl.obolibrary.org/obo/CHEBI_33906 | cobalt corrinoid |
| http://purl.obolibrary.org/obo/CHEBI_33890 | cobalt coordination entity |
| http://purl.obolibrary.org/obo/CHEBI_33888 | cobalt molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33767 | cobalt group molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33861 | transition element coordination entity |
| http://purl.obolibrary.org/obo/CHEBI_33240 | coordination entity |
| http://purl.obolibrary.org/obo/CHEBI_33913 | corrinoid |
| http://purl.obolibrary.org/obo/CHEBI_33909 | metallotetrapyrrole |
| http://purl.obolibrary.org/obo/GO_0097164 | ammonium ion metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0011878 | muscle layer of esophagus |
| http://purl.obolibrary.org/obo/UBERON_0035804 | future mouth |
| http://purl.obolibrary.org/obo/GO_0097159 | organic cyclic compound binding |
| http://purl.obolibrary.org/obo/UBERON_0035805 | muscle layer of sigmoid colon |
| http://purl.obolibrary.org/obo/UBERON_0012489 | muscle layer of colon |
| http://purl.obolibrary.org/obo/UBERON_0011871 | nasomaxillary suture |
| http://purl.obolibrary.org/obo/UBERON_0011877 | margin of tongue |
| http://purl.obolibrary.org/obo/UBERON_0011875 | ligament of sternoclavicular joint |
| http://purl.obolibrary.org/obo/PR_000028364 | von Willebrand factor, signal peptide removed form (human) |
| http://purl.obolibrary.org/obo/PR_000021840 | von Willebrand factor, signal peptide removed form |
| http://purl.obolibrary.org/obo/GO_0097194 | execution phase of apoptosis |
| http://purl.obolibrary.org/obo/UBERON_0008231 | dorsal thoracic segment of trunk |
| http://purl.obolibrary.org/obo/CHEBI_16134 | ammonia |
| http://purl.obolibrary.org/obo/CHEBI_37176 | mononuclear parent hydride |
| http://purl.obolibrary.org/obo/CHEBI_138675 | gas molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_35107 | azane |
| http://purl.obolibrary.org/obo/CHEBI_35106 | nitrogen hydride |
| http://purl.obolibrary.org/obo/CHEBI_35881 | pnictogen hydride |
| http://purl.obolibrary.org/obo/CHEBI_16135 | isobutyric acid |
| http://purl.obolibrary.org/obo/CHEBI_140601 | fatty acid 4:0 |
| http://purl.obolibrary.org/obo/CHEBI_26666 | short-chain fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_16137 | chondroitin D-glucuronate |
| http://purl.obolibrary.org/obo/CHEBI_37395 | mucopolysaccharide |
| http://purl.obolibrary.org/obo/GO_1902093 | positive regulation of flagellated sperm motility |
| http://purl.obolibrary.org/obo/GO_2000243 | positive regulation of reproductive process |
| http://purl.obolibrary.org/obo/GO_0097186 | amelogenesis |
| http://purl.obolibrary.org/obo/GO_0042475 | odontogenesis of dentin-containing tooth |
| http://purl.obolibrary.org/obo/GO_0042476 | odontogenesis |
| http://purl.obolibrary.org/obo/UBERON_0008242 | lower back muscle |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4057 | G6PD (human) |
| http://purl.obolibrary.org/obo/UBERON_0011894 | lumen of vagina |
| http://purl.obolibrary.org/obo/GO_2000294 | positive regulation of defecation |
| http://purl.obolibrary.org/obo/GO_2000293 | negative regulation of defecation |
| http://purl.obolibrary.org/obo/UBERON_0011892 | anterior uvea |
| http://purl.obolibrary.org/obo/GO_2000292 | regulation of defecation |
| http://purl.obolibrary.org/obo/UBERON_0011899 | epimysium |
| http://purl.obolibrary.org/obo/UBERON_0008243 | upper back muscle |
| http://purl.obolibrary.org/obo/UBERON_0002324 | muscle of back |
| HP:0011560 | Mitral atresia |
| HP:0011561 | Overriding atrioventricular valve |
| HP:0011562 | Straddling atrioventricular valve |
| HP:0011546 | Abnormal atrioventricular connection |
| HP:0011564 | Mitral valve arcade |
| HP:0011565 | Common atrium |
| HP:0011566 | Cor triatriatum dexter |
| HP:0011567 | Sinus venosus atrial septal defect |
| HP:0001631 | Atrial septal defect |
| HP:0011994 | Abnormal atrial septum morphology |
| http://purl.obolibrary.org/obo/CHEBI_16199 | urea |
| http://purl.obolibrary.org/obo/CHEBI_29347 | monocarboxylic acid amide |
| http://purl.obolibrary.org/obo/UBERON_0011824 | fibrous connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0011827 | areolar gland |
| HP:0011568 | Double orifice mitral valve |
| HP:0011569 | Cleft anterior mitral valve leaflet |
| HP:0031480 | Abnormal mitral valve leaflet morphology |
| http://purl.obolibrary.org/obo/GO_0120033 | negative regulation of plasma membrane bounded cell projection assembly |
| http://purl.obolibrary.org/obo/GO_0031345 | negative regulation of cell projection organization |
| http://purl.obolibrary.org/obo/GO_0120032 | regulation of plasma membrane bounded cell projection assembly |
| http://purl.obolibrary.org/obo/GO_0060491 | regulation of cell projection assembly |
| http://purl.obolibrary.org/obo/GO_0120035 | regulation of plasma membrane bounded cell projection organization |
| http://purl.obolibrary.org/obo/GO_0031344 | regulation of cell projection organization |
| http://purl.obolibrary.org/obo/UBERON_0011820 | atrioventricular region |
| HP:0011571 | Parachute mitral valve |
| HP:0011572 | Supramitral ring |
| HP:0011573 | Hypoplastic tricuspid valve |
| HP:0011575 | Imperforate tricuspid valve |
| HP:0011574 | Imperforate atrioventricular valve |
| http://purl.obolibrary.org/obo/CHEBI_43799 | butan-1-amine |
| http://purl.obolibrary.org/obo/CHEBI_17062 | primary aliphatic amine |
| http://purl.obolibrary.org/obo/CHEBI_32877 | primary amine |
| http://purl.obolibrary.org/obo/CHEBI_50994 | primary amino compound |
| HP:0011576 | Intermediate atrioventricular canal defect |
| HP:0011577 | Partial atrioventricular canal defect |
| HP:0011578 | Transitional atrioventricular canal defect |
| http://purl.obolibrary.org/obo/CHEBI_28159 | D-asparagine |
| HP:0011570 | Congenital mitral stenosis |
| HP:0001718 | Mitral stenosis |
| HP:0031481 | Abnormal mitral valve physiology |
| http://purl.obolibrary.org/obo/UBERON_0035849 | orbital margin |
| HP:0011579 | Unbalanced atrioventricular canal defect |
| HP:0006695 | Atrioventricular canal defect |
| HP:0011582 | Abdominal ectopia cordis |
| HP:0011583 | Cervical ectopia cordis |
| HP:0011584 | Thoracocervical ectopia cordis |
| HP:0011585 | Thoracic ectopia cordis |
| HP:0011586 | Thoracoabdominal ectopia cordis |
| HP:0001683 | Ectopia cordis |
| HP:0011588 | Cervical aortic arch |
| HP:0011589 | Common origin of the right brachiocephalic artery and left common carotid artery |
| HP:0011580 | Short chordae tendineae of the mitral valve |
| HP:0025523 | Abnormal morphology of the chordae tendinae of the mitral valve |
| http://purl.obolibrary.org/obo/CHEBI_77119 | EC 1.1.1.189 (prostaglandin-E2 9-reductase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76835 | EC 1.1.1.* (oxidoreductase acting on donor CH-OH group, NAD(+) or NADP(+) acceptor) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76726 | EC 1.1.* (oxidoreductase acting on donor CH-OH group) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76725 | EC 1.* (oxidoreductase) inhibitor |
| HP:0011581 | Double outlet left ventricle |
| http://purl.obolibrary.org/obo/UBERON_0011847 | acinus of parotid gland |
| http://purl.obolibrary.org/obo/UBERON_0011845 | duct of sebaceous gland |
| http://purl.obolibrary.org/obo/CHEBI_16179 | retinyl ester |
| http://purl.obolibrary.org/obo/CHEBI_33308 | carboxylic ester |
| http://purl.obolibrary.org/obo/UBERON_0035831 | costal diaphragm |
| HP:0011593 | Left aortic arch with retroesophageal diverticulum of Kommerell |
| HP:0011594 | Right aortic arch with retroesophageal diverticulum of Kommerell |
| HP:0011595 | Left aortic arch with retroesophageal right subclavian artery |
| HP:0011596 | Left aortic arch with right descending aorta and right ductus arteriosus |
| HP:0011597 | Right aortic arch with left descending aorta and left ductus arteriosus |
| HP:0011598 | Right aortic arch with retroesophageal left subclavian artery |
| HP:0012020 | Right aortic arch |
| HP:0011599 | Mesocardia |
| HP:0011590 | Double aortic arch |
| HP:0011591 | Left aortic arch with cervical origin of the right subclavian artery |
| HP:0011592 | Left aortic arch with isolated subclavian artery |
| HP:0031055 | Abnormal branching pattern of left aortic arch |
| http://purl.obolibrary.org/obo/CHEBI_16180 | N-acylglycine |
| http://purl.obolibrary.org/obo/CHEBI_140325 | secondary carboxamide |
| http://purl.obolibrary.org/obo/UBERON_0011859 | internal acoustic meatus |
| http://purl.obolibrary.org/obo/UBERON_0011857 | acinus of lacrimal gland |
| http://purl.obolibrary.org/obo/UBERON_0035826 | left adrenal gland medulla |
| http://purl.obolibrary.org/obo/UBERON_0035825 | left adrenal gland cortex |
| http://purl.obolibrary.org/obo/UBERON_0035828 | right adrenal gland medulla |
| http://purl.obolibrary.org/obo/UBERON_0035827 | right adrenal gland cortex |
| http://purl.obolibrary.org/obo/CHEBI_16189 | sulfate |
| http://purl.obolibrary.org/obo/UBERON_0011850 | acinus of salivary gland |
| http://purl.obolibrary.org/obo/UBERON_0008203 | pelvic cavity |
| http://purl.obolibrary.org/obo/UBERON_0011854 | acinus of areolar gland |
| http://purl.obolibrary.org/obo/UBERON_0011846 | acinus of sebaceous gland |
| http://purl.obolibrary.org/obo/UBERON_0011856 | acinus of lactiferous gland |
| http://purl.obolibrary.org/obo/UBERON_0035820 | peritoneal sac |
| http://purl.obolibrary.org/obo/UBERON_0008200 | forehead |
| http://purl.obolibrary.org/obo/GO_1990770 | small intestine smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0006939 | smooth muscle contraction |
| http://purl.obolibrary.org/obo/GO_0006936 | muscle contraction |
| http://purl.obolibrary.org/obo/GO_0003012 | muscle system process |
| HP:0045063 | Increased PIVKA-II |
| HP:0045061 | Decreased carnitine level in liver |
| http://purl.obolibrary.org/obo/GO_2000108 | positive regulation of leukocyte apoptotic process |
| http://purl.obolibrary.org/obo/GO_2000107 | negative regulation of leukocyte apoptotic process |
| http://purl.obolibrary.org/obo/GO_2000106 | regulation of leukocyte apoptotic process |
| HP:0045079 | Distal femoral metaphyseal irregularity |
| HP:0045074 | Thin eyebrow |
| HP:0045048 | Increased HbA2 hemoglobin |
| HP:0045044 | Decreased serum complement C4b |
| HP:0045045 | Elevated plasma acylcarnitine levels |
| HP:0012071 | Abnormal circulating acetylcarnitine concentration |
| HP:0045046 | Reduced insulin like growth factor binding protein acid labile subunit level |
| HP:0031034 | Abnormal insulin like growth factor binding protein acid labile subunit level |
| HP:0045047 | HbS hemoglobin |
| http://purl.obolibrary.org/obo/GO_1990748 | cellular detoxification |
| http://purl.obolibrary.org/obo/GO_0098754 | detoxification |
| HP:0045041 | Reduced lactate dehydrogenase B level |
| HP:0045040 | Abnormal lactate dehydrogenase level |
| HP:0045043 | Decreased serum complement C4a |
| HP:0045042 | Decreased serum complement C4 |
| HP:0045059 | Hyperkeratotic papule |
| http://purl.obolibrary.org/obo/UBERON_0011819 | lumen of atrioventricular canal |
| HP:0045055 | Tiger tail banding |
| http://purl.obolibrary.org/obo/UBERON_0011818 | superficial fascia |
| http://purl.obolibrary.org/obo/UBERON_0011817 | skin appendage placode |
| http://purl.obolibrary.org/obo/UBERON_0011814 | non-neurogenic ectodermal placode |
| HP:0045057 | Decreased levels of alpha-fetoprotein |
| HP:0045051 | Decreased DLCO |
| HP:0045053 | Abnormality of the lumbosacral nerve plexus |
| HP:0045054 | Brachial plexus neuropathy |
| HP:0045052 | Abnormality of the brachial nerve plexus |
| http://purl.obolibrary.org/obo/PR_000018964 | intestinal alkaline phosphatase, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000003964 | intestinal alkaline phosphatase |
| HP:0045050 | Increased DLCO |
| HP:0045049 | Abnormal DLCO |
| http://purl.obolibrary.org/obo/PR_000018966 | alkaline phosphatase, tissue-nonspecific isozyme, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000003968 | alkaline phosphatase, tissue-nonspecific isozyme |
| http://purl.obolibrary.org/obo/GO_2000155 | positive regulation of cilium-dependent cell motility |
| http://purl.obolibrary.org/obo/CHEBI_16113 | cholesterol |
| http://purl.obolibrary.org/obo/CHEBI_131619 | C27-steroid |
| http://purl.obolibrary.org/obo/CHEBI_1722 | 3beta-hydroxy-Delta(5)-steroid |
| http://purl.obolibrary.org/obo/CHEBI_35348 | 3beta-sterol |
| http://purl.obolibrary.org/obo/CHEBI_15889 | sterol |
| http://purl.obolibrary.org/obo/CHEBI_50401 | cholestanoid |
| HP:0045090 | Minor finding |
| http://purl.obolibrary.org/obo/PR_P26842 | CD27 antigen (human) |
| HP:0045089 | Distinctive finding |
| HP:0045088 | Clinical relevance |
| HP:0045084 | Limb myoclonus |
| HP:0045085 | Atrophy of masseter muscle |
| HP:3000005 | Abnormality of masseter muscle |
| HP:0045086 | Knee joint hypermobility |
| HP:0010500 | Hyperextensibility of the knee |
| HP:0045087 | Hip joint hypermobility |
| HP:0045080 | Decreased proportion of CD3-positive T cells |
| HP:0045082 | Decreased body mass index |
| HP:0004325 | Decreased body weight |
| HP:0045081 | Abnormality of body mass index |
| HP:0004323 | Abnormality of body weight |
| http://purl.obolibrary.org/obo/GO_0002711 | positive regulation of T cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002710 | negative regulation of T cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002714 | positive regulation of B cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002824 | positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains |
| http://purl.obolibrary.org/obo/GO_0002821 | positive regulation of adaptive immune response |
| http://purl.obolibrary.org/obo/GO_0002713 | negative regulation of B cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002823 | negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains |
| http://purl.obolibrary.org/obo/GO_0002820 | negative regulation of adaptive immune response |
| http://purl.obolibrary.org/obo/GO_0002712 | regulation of B cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002719 | negative regulation of cytokine production involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002717 | positive regulation of natural killer cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0045089 | positive regulation of innate immune response |
| http://purl.obolibrary.org/obo/GO_0002833 | positive regulation of response to biotic stimulus |
| http://purl.obolibrary.org/obo/GO_0002716 | negative regulation of natural killer cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002715 | regulation of natural killer cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0045824 | negative regulation of innate immune response |
| http://purl.obolibrary.org/obo/GO_0045088 | regulation of innate immune response |
| http://purl.obolibrary.org/obo/GO_0031348 | negative regulation of defense response |
| http://purl.obolibrary.org/obo/GO_0002832 | negative regulation of response to biotic stimulus |
| http://purl.obolibrary.org/obo/GO_0002831 | regulation of response to biotic stimulus |
| http://purl.obolibrary.org/obo/GO_0002701 | negative regulation of production of molecular mediator of immune response |
| http://purl.obolibrary.org/obo/GO_0002708 | positive regulation of lymphocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002707 | negative regulation of lymphocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002704 | negative regulation of leukocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002698 | negative regulation of immune effector process |
| http://purl.obolibrary.org/obo/GO_0002705 | positive regulation of leukocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002709 | regulation of T cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002706 | regulation of lymphocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002703 | regulation of leukocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002822 | regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains |
| http://purl.obolibrary.org/obo/GO_0002819 | regulation of adaptive immune response |
| http://purl.obolibrary.org/obo/GO_0048103 | somatic stem cell division |
| HP:0011708 | Mobitz II atrioventricular block |
| HP:0011709 | Atrioventricular dissociation |
| HP:0011700 | Automatic atrial tachycardia |
| HP:0011701 | Multifocal atrial tachycardia |
| HP:0011704 | Sick sinus syndrome |
| HP:0011705 | First degree atrioventricular block |
| HP:0011707 | Mobitz I atrioventricular block |
| HP:0011706 | Second degree atrioventricular block |
| HP:0011719 | Supracardiac total anomalous pulmonary venous connection |
| http://purl.obolibrary.org/obo/GO_0002720 | positive regulation of cytokine production involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002702 | positive regulation of production of molecular mediator of immune response |
| http://purl.obolibrary.org/obo/GO_0002699 | positive regulation of immune effector process |
| http://purl.obolibrary.org/obo/GO_0002718 | regulation of cytokine production involved in immune response |
| http://purl.obolibrary.org/obo/GO_0002700 | regulation of production of molecular mediator of immune response |
| http://purl.obolibrary.org/obo/GO_0002697 | regulation of immune effector process |
| HP:0011711 | Left anterior fascicular block |
| HP:0011712 | Right bundle branch block |
| HP:0011714 | Libman-Sacks lesions |
| HP:0100584 | Endocarditis |
| HP:0004306 | Abnormal endocardium morphology |
| HP:0011715 | Trifascicular block |
| HP:0011716 | Junctional ectopic tachycardia |
| HP:0011717 | Atrioventricular reentrant tachycardia |
| http://purl.obolibrary.org/obo/GO_0002762 | negative regulation of myeloid leukocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045638 | negative regulation of myeloid cell differentiation |
| http://purl.obolibrary.org/obo/UBERON_2000238 | olfactory tract linking bulb to ipsilateral ventral telencephalon |
| http://purl.obolibrary.org/obo/UBERON_0002265 | olfactory tract |
| http://purl.obolibrary.org/obo/GO_0051711 | negative regulation of killing of cells of other organism |
| http://purl.obolibrary.org/obo/GO_0031342 | negative regulation of cell killing |
| http://purl.obolibrary.org/obo/GO_0043901 | negative regulation of multi-organism process |
| http://purl.obolibrary.org/obo/GO_0051712 | positive regulation of killing of cells of other organism |
| http://purl.obolibrary.org/obo/GO_0031343 | positive regulation of cell killing |
| http://purl.obolibrary.org/obo/GO_0043902 | positive regulation of multi-organism process |
| http://purl.obolibrary.org/obo/PR_P24270 | catalase (mouse) |
| http://purl.obolibrary.org/obo/GO_0051703 | intraspecies interaction between organisms |
| http://purl.obolibrary.org/obo/GO_0051702 | interaction with symbiont |
| http://purl.obolibrary.org/obo/GO_0051709 | regulation of killing of cells of other organism |
| http://purl.obolibrary.org/obo/GO_0031341 | regulation of cell killing |
| http://purl.obolibrary.org/obo/GO_0043900 | regulation of multi-organism process |
| http://purl.obolibrary.org/obo/GO_0002763 | positive regulation of myeloid leukocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0002761 | regulation of myeloid leukocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045639 | positive regulation of myeloid cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045637 | regulation of myeloid cell differentiation |
| http://purl.obolibrary.org/obo/PR_000018921 | alpha-fetoprotein, signal peptide removed form |
| HP:0011640 | Single coronary artery origin |
| HP:0011641 | Coronary artery fistula |
| HP:0011643 | Coronary sinus atrial septal defect |
| HP:0011644 | Coronary sinus diverticulum |
| HP:0011642 | Abnormal coronary sinus morphology |
| http://purl.obolibrary.org/obo/PATO_0000381 | decreased frequency |
| http://purl.obolibrary.org/obo/PATO_0000911 | decreased rate |
| http://purl.obolibrary.org/obo/PATO_0000380 | increased frequency |
| http://purl.obolibrary.org/obo/PATO_0000912 | increased rate |
| http://purl.obolibrary.org/obo/PATO_0000044 | frequency |
| http://purl.obolibrary.org/obo/PATO_0050000 | rate of occurence |
| http://purl.obolibrary.org/obo/PATO_0000161 | rate |
| http://purl.obolibrary.org/obo/CHEBI_28087 | glycogen |
| HP:0011645 | Dilatation of the sinus of Valsalva |
| HP:0004970 | Ascending tubular aorta aneurysm |
| http://purl.obolibrary.org/obo/GO_0061037 | negative regulation of cartilage development |
| HP:0011646 | Juxtaductal coarctation of the aorta |
| http://purl.obolibrary.org/obo/GO_0061036 | positive regulation of cartilage development |
| HP:0011647 | Postductal coarctation of the aorta |
| http://purl.obolibrary.org/obo/GO_0061035 | regulation of cartilage development |
| HP:0011648 | Patent ductus arteriosus after birth at term |
| HP:0011649 | Patent ductus arteriosus after premature birth |
| http://purl.obolibrary.org/obo/UBERON_0035776 | accessory ciliary ganglion |
| HP:0011650 | Bilateral ductus arteriosus |
| HP:0001643 | Patent ductus arteriosus |
| HP:0011651 | Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis |
| HP:0011652 | Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis |
| HP:0011653 | Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis |
| HP:0011654 | Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis |
| HP:0011655 | Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis |
| HP:0008001 | Foveal hyperpigmentation |
| HP:0011509 | Macular hyperpigmentation |
| HP:0008000 | Decreased corneal reflex |
| HP:0008005 | Congenital corneal dystrophy |
| HP:0008003 | Jerky ocular pursuit movements |
| http://purl.obolibrary.org/obo/UBERON_0035767 | intrapulmonary bronchus |
| http://purl.obolibrary.org/obo/UBERON_0002185 | bronchus |
| HP:0011656 | Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis |
| HP:0008009 | Three rows of eyelashes |
| HP:0011657 | Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis |
| HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis |
| HP:0001719 | Double outlet right ventricle |
| HP:0011659 | Tetralogy of Fallot with absent pulmonary valve |
| HP:0008007 | Primary congenital glaucoma |
| http://purl.obolibrary.org/obo/UBERON_0035763 | cavity of cardiac chamber |
| http://purl.obolibrary.org/obo/UBERON_0008188 | tendon of biceps brachii |
| http://purl.obolibrary.org/obo/UBERON_0035764 | pulmonary lymph node |
| http://purl.obolibrary.org/obo/CHEBI_16094 | thiosulfate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_79388 | divalent inorganic anion |
| HP:0011661 | Anomalous origin of left pulmonary artery from ascending aorta |
| HP:0011663 | Right ventricular cardiomyopathy |
| HP:0011664 | Left ventricular noncompaction cardiomyopathy |
| HP:0012817 | Noncompaction cardiomyopathy |
| HP:0011665 | Takotsubo cardiomyopathy |
| HP:0011666 | Absent right superior vena cava |
| HP:0008020 | Cone dystrophy |
| HP:0000548 | Cone/cone-rod dystrophy |
| http://purl.obolibrary.org/obo/PATO_0000396 | severe intensity |
| http://purl.obolibrary.org/obo/PATO_0000394 | mild intensity |
| http://purl.obolibrary.org/obo/PATO_0000395 | moderate intensity |
| http://purl.obolibrary.org/obo/PATO_0000049 | intensity |
| http://purl.obolibrary.org/obo/UBERON_0008198 | nail plate |
| HP:0008011 | Peripheral opacification of the cornea |
| http://purl.obolibrary.org/obo/GO_0099643 | signal release from synapse |
| HP:0008014 | Central fundal arteriolar microaneurysms |
| http://purl.obolibrary.org/obo/UBERON_0008192 | tendon of triceps brachii |
| http://purl.obolibrary.org/obo/CHEBI_65023 | anti-asthmatic agent |
| HP:0011667 | Bilateral superior vena cava with bridging vein |
| HP:0011668 | Bilateral superior vena cava with no bridging vein |
| HP:0008019 | Superior lens subluxation |
| HP:0001132 | Lens subluxation |
| HP:0001083 | Ectopia lentis |
| HP:0011669 | Left superior vena cava draining directly to the left atrium |
| http://purl.obolibrary.org/obo/UBERON_0008199 | chin |
| HP:0011670 | Left superior vena cava draining to coronary sinus |
| HP:0011671 | Interrupted inferior vena cava with azygous continuation |
| HP:0025576 | Abnormal inferior vena cava morphology |
| HP:0011672 | Cardiac myxoma |
| HP:0011673 | Cardiac hemangioma |
| HP:0011674 | Cardiac teratoma |
| HP:0011676 | Tetralogy of Fallot with absent subarterial conus |
| HP:0011677 | Tetralogy of Fallot with atrioventricular canal defect |
| http://purl.obolibrary.org/obo/PATO_0000389 | acute |
| http://purl.obolibrary.org/obo/PATO_0000387 | soft |
| HP:0008031 | Posterior Y-sutural cataract |
| HP:0008030 | Retinal arteritis |
| HP:0025188 | Retinal vasculitis |
| HP:0012089 | Arteritis |
| http://purl.obolibrary.org/obo/PATO_0000386 | hard |
| http://purl.obolibrary.org/obo/PATO_0000048 | hardness |
| http://purl.obolibrary.org/obo/PATO_0001546 | quality of a solid |
| HP:0008028 | Cystoid macular degeneration |
| HP:0008026 | Horizontal opticokinetic nystagmus |
| HP:0011678 | Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries |
| HP:0012516 | Tetralogy of Fallot with pulmonary atresia |
| HP:0011679 | Tetralogy of Fallot with pulmonary stenosis |
| HP:0001636 | Tetralogy of Fallot |
| HP:0001710 | Conotruncal defect |
| HP:0011563 | Abnormal ventriculoarterial connection |
| HP:0011545 | Abnormal connection of the cardiac segments |
| HP:0002623 | Overriding aorta |
| HP:0001642 | Pulmonic stenosis |
| HP:0031654 | Abnormal pulmonary valve physiology |
| HP:0001667 | Right ventricular hypertrophy |
| http://purl.obolibrary.org/obo/GO_1902113 | nucleotide phosphorylation involved in DNA repair |
| http://purl.obolibrary.org/obo/GO_1902117 | positive regulation of organelle assembly |
| http://purl.obolibrary.org/obo/GO_1902116 | negative regulation of organelle assembly |
| http://purl.obolibrary.org/obo/GO_1902115 | regulation of organelle assembly |
| HP:0011609 | Type III truncus arteriosus |
| HP:0011601 | Rightward direction of ventricular apex |
| HP:0011602 | Midline direction of ventricular apex |
| HP:0011600 | Abnormal direction of ventricular apex |
| HP:0004307 | Abnormal anatomic location of the heart |
| HP:0011604 | Aortopulmonary window |
| HP:0011605 | Congenitally corrected transposition of the great arteries with ventricular septal defect |
| HP:0011540 | Congenitally corrected transposition of the great arteries |
| HP:0011534 | Abnormal spatial orientation of the cardiac segments |
| HP:0011608 | Type II truncus arteriosus |
| HP:0011610 | Type IV truncus arteriosus |
| HP:0001660 | Truncus arteriosus |
| http://purl.obolibrary.org/obo/GO_0051674 | localization of cell |
| http://purl.obolibrary.org/obo/GO_1902106 | negative regulation of leukocyte differentiation |
| http://purl.obolibrary.org/obo/GO_1902107 | positive regulation of leukocyte differentiation |
| http://purl.obolibrary.org/obo/GO_1902105 | regulation of leukocyte differentiation |
| HP:0011612 | Interrupted aortic arch type A |
| HP:0011613 | Interrupted aortic arch type B |
| HP:0011614 | Interrupted aortic arch type C |
| HP:0011611 | Interrupted aortic arch |
| HP:0011616 | Pulmonary situs inversus |
| HP:0011618 | Pulmonary situs ambiguus with bilateral morphologic right lungs |
| HP:0011619 | Pulmonary situs ambiguus with bilateral morphologic left lungs |
| HP:0011617 | Pulmonary situs ambiguus |
| HP:0011615 | Abnormal pulmonary situs morphology |
| HP:0500008 | Cornea verticillata |
| HP:0500009 | Dysplastic gangliocytoma of the cerebellum |
| HP:0500006 | Urethritis |
| HP:0500007 | Iris flocculi |
| HP:0011621 | Gerbode ventricular septal defect |
| HP:0011622 | Inlet ventricular septal defect |
| HP:0011624 | Apical muscular ventricular septal defect |
| http://purl.obolibrary.org/obo/GO_0048018 | receptor ligand activity |
| http://purl.obolibrary.org/obo/GO_0030546 | signaling receptor activator activity |
| http://purl.obolibrary.org/obo/GO_0030545 | receptor regulator activity |
| http://purl.obolibrary.org/obo/GO_0098772 | molecular function regulator |
| HP:0011625 | Multiple muscular ventricular septal defects |
| HP:0011623 | Muscular ventricular septal defect |
| HP:0011626 | Scimitar anomaly |
| HP:0011627 | Aorto-ventricular tunnel |
| HP:0011629 | Total absence of the pericardium |
| http://purl.obolibrary.org/obo/UBERON_0035783 | ganglion of ciliary nerve |
| HP:0500019 | Abnormal resting energy expenditure from metabolic cart test |
| HP:0011630 | Complete diaphragmatic absence of pericardium |
| HP:0500017 | Abnormal cardiac catheterization |
| HP:0011631 | Complete right sided absence of pericardium |
| HP:0500018 | Abnormal cardiac exercise stress test |
| HP:0011632 | Partial right sided absence of pericardium |
| HP:0011633 | Complete left sided absence of pericardium |
| HP:0500016 | Abnormal cardiac MRI |
| HP:0500013 | Lack of gonadotropin-releasing hormone pulsatility |
| HP:0500011 | Moon facies |
| http://purl.obolibrary.org/obo/GO_0051650 | establishment of vesicle localization |
| http://purl.obolibrary.org/obo/GO_0051656 | establishment of organelle localization |
| http://purl.obolibrary.org/obo/GO_0051648 | vesicle localization |
| http://purl.obolibrary.org/obo/GO_0051640 | organelle localization |
| HP:0011634 | Partial left sided absence of pericardium |
| HP:0011635 | Partial diaphragmatic absence of pericardium |
| HP:0011628 | Congenital defect of the pericardium |
| HP:0011638 | Anomalous origin of left coronary artery from the pulmonary artery |
| HP:0011639 | Anomalous origin of right coronary artery from the pulmonary artery |
| HP:0011637 | Anomalous origin of coronary artery from the pulmonary artery |
| HP:0011636 | Abnormal coronary artery origin |
| HP:0033011 | Platystencephaly |
| HP:0033010 | Increased fecal coproporphyrin 3 |
| HP:0033017 | Transient decreased circulating IgD |
| HP:0500028 | Cotton wool plaques |
| HP:0100256 | Senile plaques |
| HP:0033016 | Chronic decreased circulating IgD |
| HP:0033015 | Increased salivary cortisol level |
| HP:0500026 | Hypoplasia of the musculature of the pelvis |
| HP:0033014 | Decreased salivary cortisol level |
| HP:0033013 | Abnormal salivary cortisol level |
| HP:0033012 | Abnormal salivary metabolite concentration |
| HP:0500027 | Aplastic colon |
| HP:0008082 | Medial deviation of the foot |
| HP:0500024 | Aplasia of the musculature of the pelvis |
| HP:0001471 | Aplasia/Hypoplasia of the musculature of the pelvis |
| HP:0001469 | Abnormal morphology of the pelvis musculature |
| HP:0008081 | Pes valgus |
| HP:0500022 | Abnormal serum dehydroepiandrosterone level |
| HP:0008080 | Hallux varus |
| HP:0500023 | Shoulder muscle aplasia |
| HP:0003634 | Amyoplasia |
| HP:0500021 | Reduced brain gamma-aminobutyric acid level by MRS |
| HP:0008083 | 2nd-5th toe middle phalangeal hypoplasia |
| HP:0010357 | Abnormality of the middle phalanx of the 2nd toe |
| HP:0010324 | Abnormality of phalanx of the 2nd toe |
| HP:0010369 | Abnormality of the middle phalanx of the 3rd toe |
| HP:0010330 | Abnormality of the phalanges of the 3rd toe |
| HP:0010393 | Abnormality of the middle phalanx of the 5th toe |
| HP:0010342 | Abnormality of the phalanges of the 5th toe |
| HP:0003795 | Short middle phalanx of toe |
| HP:0010381 | Abnormality of the middle phalanx of the 4th toe |
| HP:0010336 | Abnormality of the phalanges of the 4th toe |
| HP:0010183 | Abnormality of the middle phalanges of the toes |
| HP:0008079 | Absent fifth metatarsal |
| HP:0008078 | Thin metatarsal cortices |
| HP:0008076 | Osteoporotic tarsals |
| HP:0033018 | Chronic absent circulating IgD |
| http://purl.obolibrary.org/obo/UBERON_0011745 | pulmonary valve leaflets |
| http://purl.obolibrary.org/obo/UBERON_0011742 | aortic valve leaflet |
| HP:0033002 | Bronchial papilloma |
| HP:0033001 | Laryngeal papilloma |
| HP:0100605 | Neoplasm of the larynx |
| HP:0033000 | Subglottic laryngitis |
| HP:0033006 | Diffuse alveolar damage |
| http://purl.obolibrary.org/obo/CHEBI_16042 | halide anion |
| http://purl.obolibrary.org/obo/CHEBI_33429 | monoatomic monoanion |
| http://purl.obolibrary.org/obo/CHEBI_23905 | monoatomic anion |
| http://purl.obolibrary.org/obo/CHEBI_79389 | monovalent inorganic anion |
| HP:0033005 | Plantar warts |
| HP:0033004 | Palmar warts |
| HP:0500037 | Nasolacrimal sac epithelial papillary carcinoma |
| HP:0033003 | Tracheal papilloma |
| HP:0100551 | Neoplasm of the trachea |
| HP:0008093 | Short 4th toe |
| HP:0500036 | Nasolacrimal sac papilloma |
| HP:0500035 | Nasolacrimal sac granuloma |
| HP:0500034 | Nasolacrimal sac obstruction |
| HP:0008090 | Ankylosis of feet small joints |
| HP:0008097 | Partial fusion of tarsals |
| HP:0500031 | Sclerosis of the carpal bones |
| HP:0500032 | Abnormal neuron branching |
| HP:0008096 | Medially deviated second toe |
| HP:0008095 | Osteolysis of talus |
| HP:0009134 | Osteolysis involving bones of the feet |
| HP:0009139 | Osteolysis involving bones of the lower limbs |
| HP:0008094 | Widely spaced toes |
| HP:0500030 | Abnormal hepatic glycogen storage |
| http://purl.obolibrary.org/obo/GO_0000096 | sulfur amino acid metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0011757 | differentiated genital tubercle |
| HP:0008087 | Nonossified fifth metatarsal |
| HP:0008371 | Abnormal metatarsal ossification |
| http://purl.obolibrary.org/obo/GO_0099699 | integral component of synaptic membrane |
| http://purl.obolibrary.org/obo/GO_0099240 | intrinsic component of synaptic membrane |
| http://purl.obolibrary.org/obo/GO_0005887 | integral component of plasma membrane |
| http://purl.obolibrary.org/obo/GO_0031226 | intrinsic component of plasma membrane |
| HP:0033009 | Increased fecal coproporphyrin 1 |
| HP:0033008 | Increased Z-disc width |
| HP:0033007 | Architectural distortion of the lung |
| http://purl.obolibrary.org/obo/UBERON_0011756 | male genital swelling |
| http://purl.obolibrary.org/obo/UBERON_0011755 | female labial swelling |
| http://purl.obolibrary.org/obo/UBERON_0011754 | genital swelling |
| http://purl.obolibrary.org/obo/PATO_0000318 | blue |
| http://purl.obolibrary.org/obo/PATO_0000319 | cyan |
| http://purl.obolibrary.org/obo/CHEBI_16010 | 5-oxoproline |
| http://purl.obolibrary.org/obo/CHEBI_74223 | pyrrolidin-2-ones |
| http://purl.obolibrary.org/obo/CHEBI_74222 | gamma-lactam |
| http://purl.obolibrary.org/obo/CHEBI_25801 | oxoproline |
| http://purl.obolibrary.org/obo/CHEBI_38275 | pyrrolidinone |
| HP:0500048 | Delayed canalization of nasolacrimal duct |
| HP:0500046 | Seborrhoeic blepharitis |
| HP:0025610 | Posterior blepharitis |
| HP:0000498 | Blepharitis |
| HP:0500047 | Nasolacrimal sac lymphoma |
| HP:3000066 | Abnormal lacrimal sac morphology |
| HP:0500045 | Collier's sign |
| HP:0500044 | Upper eyelid retraction |
| HP:0500042 | Latent hypermetropia |
| HP:0008499 | High hypermetropia |
| HP:0000540 | Hypermetropia |
| HP:0500040 | Dermolipoma of the conjunctiva |
| HP:0500039 | Conjunctival cicatrization |
| HP:0500041 | Myopic astigmatism |
| HP:0000483 | Astigmatism |
| HP:0500050 | Retinopathy of prematurity stage 1 |
| http://purl.obolibrary.org/obo/UBERON_0011769 | cartilaginous projection |
| http://purl.obolibrary.org/obo/UBERON_0008115 | surface of cartilage |
| http://purl.obolibrary.org/obo/CHEBI_16015 | L-glutamic acid |
| http://purl.obolibrary.org/obo/CHEBI_18237 | glutamic acid |
| http://purl.obolibrary.org/obo/UBERON_0011767 | right recurrent laryngeal nerve |
| http://purl.obolibrary.org/obo/GO_2000181 | negative regulation of blood vessel morphogenesis |
| http://purl.obolibrary.org/obo/UBERON_0011766 | left recurrent laryngeal nerve |
| HP:0500059 | Retinopathy of prematurity zone I |
| HP:0500057 | Retinopathy of prematurity stage 5a |
| http://purl.obolibrary.org/obo/GO_0097060 | synaptic membrane |
| http://purl.obolibrary.org/obo/GO_0098590 | plasma membrane region |
| HP:0500058 | Retinopathy of prematurity stage 5b |
| HP:0500055 | Retinopathy of prematurity stage 4b |
| http://purl.obolibrary.org/obo/PATO_0000300 | immobile |
| HP:0500056 | Retinopathy of prematurity stage 5 |
| HP:0500054 | Retinopathy of prematurity stage 4a |
| HP:0500053 | Retinopathy of prematurity stage 4 |
| HP:0500051 | Retinopathy of prematurity stage 2 |
| HP:0500052 | Retinopathy of prematurity stage 3 |
| HP:0500060 | Retinopathy of prematurity zone II |
| HP:0500061 | Retinopathy of prematurity zone III |
| http://purl.obolibrary.org/obo/CHEBI_16024 | D-mannose |
| http://purl.obolibrary.org/obo/CHEBI_17608 | D-aldohexose |
| http://purl.obolibrary.org/obo/CHEBI_4194 | D-hexose |
| http://purl.obolibrary.org/obo/CHEBI_37684 | mannose |
| http://purl.obolibrary.org/obo/UBERON_0011773 | upper jaw opening |
| http://purl.obolibrary.org/obo/UBERON_0011772 | lower jaw opening |
| http://purl.obolibrary.org/obo/GO_0036066 | protein O-linked fucosylation |
| http://purl.obolibrary.org/obo/GO_0006493 | protein O-linked glycosylation |
| http://purl.obolibrary.org/obo/GO_0006486 | protein glycosylation |
| http://purl.obolibrary.org/obo/GO_0006464 | cellular protein modification process |
| http://purl.obolibrary.org/obo/GO_0036211 | protein modification process |
| http://purl.obolibrary.org/obo/GO_0043413 | macromolecule glycosylation |
| http://purl.obolibrary.org/obo/GO_0043412 | macromolecule modification |
| http://purl.obolibrary.org/obo/GO_0036065 | fucosylation |
| http://purl.obolibrary.org/obo/GO_0070085 | glycosylation |
| http://purl.obolibrary.org/obo/UBERON_0011777 | nucleus of spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0011775 | vagus nerve nucleus |
| http://purl.obolibrary.org/obo/UBERON_0000126 | cranial nerve nucleus |
| HP:0011681 | Subarterial ventricular septal defect |
| HP:0011682 | Perimembranous ventricular septal defect |
| HP:0011683 | Restrictive ventricular septal defect |
| HP:0011684 | Non-restrictive ventricular septal defect |
| HP:0001629 | Ventricular septal defect |
| HP:0011685 | Infra-aortic superior vena cava |
| HP:0011686 | Abnormal coronary artery course |
| HP:0011687 | AV nodal tachycardia |
| HP:0500069 | Paralytic ectropion |
| HP:0500066 | Latent myopia |
| HP:0000545 | Myopia |
| HP:0000539 | Abnormality of refraction |
| HP:0500064 | Retinopathy of prematurity threshold |
| HP:0500065 | Retinopathy of prematurity prethreshold |
| HP:0008041 | Late onset congenital glaucoma |
| HP:0001087 | Developmental glaucoma |
| HP:0500062 | Retinopathy of prematurity plus |
| HP:0011680 | Single ventricle of indeterminate morphology |
| HP:0001750 | Single ventricle |
| HP:0500063 | Retinopathy of prematurity pre-plus |
| HP:0500049 | Retinopathy of prematurity |
| HP:0000488 | Retinopathy |
| http://purl.obolibrary.org/obo/CHEBI_16070 | 1,5-anhydro-D-glucitol |
| HP:0008035 | Retinitis pigmentosa inversa |
| HP:0045026 | Abnormality of the mediastinum |
| HP:0500072 | Absolute eccentric fixation |
| HP:0025549 | Eccentric visual fixation |
| HP:0025404 | Abnormal visual fixation |
| HP:0045027 | Abnormality of the thoracic cavity |
| HP:0045028 | Microlissencephaly |
| HP:0500070 | Conjunctival dermolipoma |
| HP:0045029 | Eosinophilic fasciitis |
| HP:0100537 | Fasciitis |
| HP:0100536 | Abnormality of the fascia |
| http://purl.obolibrary.org/obo/CHEBI_28044 | phenylalanine |
| http://purl.obolibrary.org/obo/CHEBI_33856 | aromatic amino acid |
| HP:0008039 | Subepithelial corneal opacities |
| HP:0008037 | Absent anterior chamber of the eye |
| http://purl.obolibrary.org/obo/GO_0036075 | replacement ossification |
| http://purl.obolibrary.org/obo/GO_0001503 | ossification |
| HP:0011692 | Supraventricular tachycardia with a concealed accessory pathway on the right free wall |
| HP:0011693 | Supraventricular tachycardia with a concealed accessory pathway on the septum |
| HP:0011695 | Cerebellar hemorrhage |
| HP:0011696 | Supraventricular tachycardia with a manifest accessory pathway on the left free wall |
| http://purl.obolibrary.org/obo/PATO_0000327 | low brightness |
| http://purl.obolibrary.org/obo/PATO_0000016 | color brightness |
| HP:0011697 | Supraventricular tachycardia with a manifest accessory pathway on the right free wall |
| http://purl.obolibrary.org/obo/PATO_0000328 | low saturation |
| http://purl.obolibrary.org/obo/PATO_0000017 | color saturation |
| http://purl.obolibrary.org/obo/PATO_0001301 | chromatic property |
| HP:0011698 | Supraventricular tachycardia with a manifest accessory pathway on the septum |
| HP:0011694 | Supraventricular tachycardia with a manifest accessory pathway |
| HP:0011699 | Atrial reentry tachycardia |
| http://purl.obolibrary.org/obo/PATO_0000323 | white |
| HP:0500079 | Alternating hypophoria |
| HP:0031725 | Hypophoria |
| HP:0500077 | Alternating hyperphoria |
| HP:0025585 | Hyperphoria |
| HP:0500078 | Alternating hypotropia |
| HP:0025584 | Hypotropia |
| HP:0025588 | Hypodeviation |
| http://purl.obolibrary.org/obo/PATO_0000322 | red |
| HP:0500075 | Dissociated horizontal deviation |
| HP:0008052 | Retinal fold |
| http://purl.obolibrary.org/obo/PATO_0000320 | green |
| http://purl.obolibrary.org/obo/PATO_0000014 | color |
| http://purl.obolibrary.org/obo/PATO_0001300 | optical quality |
| http://purl.obolibrary.org/obo/PATO_0001291 | electromagnetic (EM) radiation quality |
| http://purl.obolibrary.org/obo/PATO_0001739 | radiation quality |
| HP:0500076 | Alternating hypertropia |
| HP:0025586 | Hypertropia |
| HP:0025587 | Hyperdeviation |
| HP:0011690 | Permanent junctional reciprocating tachycardia |
| http://purl.obolibrary.org/obo/CHEBI_16080 | gamma-amino-beta-hydroxybutyric acid |
| http://purl.obolibrary.org/obo/CHEBI_33707 | gamma-amino acid |
| HP:0011691 | Supraventricular tachycardia with a concealed accessory pathway on the left free wall |
| HP:0011689 | Supraventricular tachycardia with a concealed accessory connection |
| HP:0011688 | Supraventricular tachycardia with an accessory connection mediated pathway |
| HP:0004755 | Supraventricular tachycardia |
| HP:0500074 | Dissociated vertical deviation |
| HP:0500073 | Abnormal ocular alignment |
| HP:0008045 | Enlarged flash visual evoked potentials |
| HP:0045038 | Gastric lymphoma |
| HP:0006753 | Neoplasm of the stomach |
| HP:0008043 | Retinal arteriolar constriction |
| HP:0500081 | Pseudophakia |
| HP:0045034 | Elevated urinary aminoisobutyric acid |
| HP:0045035 | Decreased urinary copper concentration |
| http://purl.obolibrary.org/obo/CHEBI_53000 | epitope |
| HP:0500088 | Foveal depigmentation |
| HP:0012643 | Foveal hypopigmentation |
| HP:0500089 | Optic nerve sheath meningioma |
| HP:0002858 | Meningioma |
| HP:0500086 | Optic nerve gray crescent |
| HP:0012511 | Temporal optic disc pallor |
| HP:0500087 | Peripapillary atrophy |
| HP:0012512 | Diffuse optic disc pallor |
| HP:0000543 | Optic disc pallor |
| HP:0045004 | Abnormal ossification of the trapezoid bone |
| HP:0004256 | Abnormality of the trapezoid bone |
| HP:0500094 | Latex allergy |
| HP:0500091 | Lymphangioma of the orbit |
| HP:0045006 | Aplasia of lymphatic vessels |
| HP:0500092 | Orbital rhabdomyosarcoma |
| HP:0002859 | Rhabdomyosarcoma |
| HP:0045007 | Abnormality of the substantia nigra |
| http://purl.obolibrary.org/obo/GO_0097028 | dendritic cell differentiation |
| HP:0500090 | Periocular capillary hemangioma |
| HP:0045002 | Absent ossification of the trapezium |
| HP:0045001 | Abnormal ossification of the trapezium |
| HP:0004252 | Abnormality of the trapezium |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6563 | LGALS3 (human) |
| HP:0045003 | Abnormal ossification of the scaphoid |
| HP:0006257 | Abnormality of carpal bone ossification |
| HP:0033024 | Transient decreased circulating IgA |
| HP:0033023 | Chronic absent circulating IgE |
| HP:0033022 | Chronic decreased circulating IgE |
| HP:0033021 | Transient decreased circulating IgE |
| HP:0033027 | Retinal peau d'orange |
| HP:0033026 | White oral mucosal macule |
| HP:0033025 | Chronic absent circulating total IgG |
| HP:0008071 | Maternal hypertension |
| HP:0100603 | Toxemia of pregnancy |
| HP:0008075 | Progressive pes cavus |
| HP:0001761 | Pes cavus |
| HP:0008074 | Metatarsal periosteal thickening |
| HP:0500095 | Food-induced anaphylaxis |
| HP:0008073 | Low maternal serum estriol |
| HP:0011436 | Abnormal maternal serum screening |
| HP:0500096 | Venom-induced anaphylaxis |
| HP:0008072 | Maternal virilization in pregnancy |
| http://purl.obolibrary.org/obo/CHEBI_28050 | homocarnosine |
| http://purl.obolibrary.org/obo/GO_0097014 | ciliary plasm |
| HP:0045018 | Partial duplication of eyebrows |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6553 | LEP (human) |
| HP:0045011 | Decreased urine bicarbonate concentration |
| HP:0011279 | Abnormality of urine bicarbonate concentration |
| HP:0045012 | Decreased urinary catecholamine concentration |
| HP:0033029 | Anti-Jo-1 antibody positivity |
| http://purl.obolibrary.org/obo/CL_0011108 | colon epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002253 | epithelial cell of large intestine |
| http://purl.obolibrary.org/obo/CL_0002563 | intestinal epithelial cell |
| http://purl.obolibrary.org/obo/CL_0011101 | chorionic trophoblast cell |
| http://purl.obolibrary.org/obo/CL_0000351 | trophoblast cell |
| http://purl.obolibrary.org/obo/CL_0000349 | extraembryonic cell |
| http://purl.obolibrary.org/obo/CHEBI_16449 | alanine |
| http://purl.obolibrary.org/obo/PR_P02772 | alpha-fetoprotein (mouse) |
| http://purl.obolibrary.org/obo/PR_P02771 | alpha-fetoprotein (human) |
| http://purl.obolibrary.org/obo/PR_000003809 | alpha-fetoprotein |
| http://purl.obolibrary.org/obo/CL_0011113 | spiral ganglion neuron |
| http://purl.obolibrary.org/obo/PR_P02786 | PR:P02786 located_in GO:0000139 |
| http://purl.obolibrary.org/obo/PR_000001945 | transferrin receptor protein 1 |
| http://purl.obolibrary.org/obo/GO_2000035 | regulation of stem cell division |
| http://purl.obolibrary.org/obo/GO_0051302 | regulation of cell division |
| http://purl.obolibrary.org/obo/GO_0036477 | somatodendritic compartment |
| http://purl.obolibrary.org/obo/GO_2000027 | regulation of animal organ morphogenesis |
| http://purl.obolibrary.org/obo/PR_P02724 | glycophorin-A (human) |
| http://purl.obolibrary.org/obo/PR_000001460 | glycophorin-A |
| http://purl.obolibrary.org/obo/PR_000001352 | glycophorin |
| http://purl.obolibrary.org/obo/CHEBI_41402 | carboxymethyl group |
| http://purl.obolibrary.org/obo/PATO_0000516 | sensitive toward |
| http://purl.obolibrary.org/obo/PATO_0000513 | insensitive toward |
| HP:0011807 | Type 1 muscle fiber atrophy |
| HP:0100295 | Muscle fiber atrophy |
| HP:0011808 | Decreased patellar reflex |
| HP:0002600 | Hyporeflexia of lower limbs |
| HP:0001265 | Hyporeflexia |
| HP:0011809 | Paradoxical myotonia |
| HP:0002486 | Myotonia |
| HP:0011800 | Midface retrusion |
| HP:0011801 | Enlargement of parotid gland |
| HP:0011802 | Hamartoma of tongue |
| HP:0011803 | Bifid nose |
| HP:0004122 | Midline defect of the nose |
| HP:0011818 | Nasofrontal encephalocele |
| HP:0011819 | Submucous cleft soft palate |
| HP:0000185 | Cleft soft palate |
| http://purl.obolibrary.org/obo/GO_0061448 | connective tissue development |
| http://purl.obolibrary.org/obo/CL_3000000 | ciliated epithelial cell of esophagus |
| http://purl.obolibrary.org/obo/CL_0002252 | epithelial cell of esophagus |
| http://purl.obolibrary.org/obo/CL_0002251 | epithelial cell of alimentary canal |
| http://purl.obolibrary.org/obo/CL_0002076 | endo-epithelial cell |
| http://purl.obolibrary.org/obo/CL_0000067 | ciliated epithelial cell |
| http://purl.obolibrary.org/obo/CL_0000064 | ciliated cell |
| http://purl.obolibrary.org/obo/CHEBI_137982 | tertiary ammonium ion |
| HP:0011810 | Impaired two-point discrimination |
| http://purl.obolibrary.org/obo/GO_0048469 | cell maturation |
| HP:0011811 | Impaired touch localization |
| HP:0011812 | Agraphesthesia |
| HP:0011814 | Increased urinary hypoxanthine |
| HP:0011816 | Parietal encephalocele |
| HP:0011817 | Basal encephalocele |
| HP:0011820 | Membranous choanal atresia |
| HP:0000453 | Choanal atresia |
| HP:0000415 | Abnormality of the choanae |
| http://purl.obolibrary.org/obo/UBERON_5001463 | manual digit 1 plus metapodial segment |
| HP:0011829 | Narrow philtrum |
| HP:0011822 | Broad chin |
| HP:0011823 | Chin with horizontal crease |
| HP:0011824 | Chin with H-shaped crease |
| HP:0011825 | Tented philtrum |
| HP:0011826 | Philtrum with midline raphe |
| HP:0011827 | Malaligned philtral ridges |
| HP:0011828 | Midline sinus of philtrum |
| HP:0011831 | Deviated nasal tip |
| HP:0011832 | Narrow nasal tip |
| HP:0011833 | Overhanging nasal tip |
| HP:0011834 | Moyamoya phenomenon |
| HP:0011835 | Absent scaphoid |
| HP:0004231 | Carpal bone aplasia |
| HP:0006502 | Aplasia/Hypoplasia involving the carpal bones |
| HP:0004243 | Abnormality of the scaphoid |
| HP:0011836 | Delayed talus ossification |
| HP:0011837 | Partial IgA deficiency |
| HP:0011838 | Sclerodactyly |
| http://purl.obolibrary.org/obo/CL_1000042 | forebrain neuroblast |
| http://purl.obolibrary.org/obo/CL_0000031 | neuroblast (sensu Vertebrata) |
| http://purl.obolibrary.org/obo/CL_1000090 | pronephric nephron tubule epithelial cell |
| HP:0011760 | Pituitary growth hormone cell adenoma |
| HP:0011761 | Pituitary null cell adenoma |
| http://purl.obolibrary.org/obo/UBERON_0035650 | nerve of clitoris |
| HP:0011762 | Pituitary thyrotropic cell adenoma |
| http://purl.obolibrary.org/obo/PR_Q10469 | PR:Q10469 located_in GO:0000139 |
| HP:0011763 | Pituitary carcinoma |
| HP:0011764 | Pituitary spindle cell oncocytoma |
| http://purl.obolibrary.org/obo/PATO_0000499 | decreased duration |
| http://purl.obolibrary.org/obo/PATO_0000498 | increased duration |
| http://purl.obolibrary.org/obo/PATO_0001309 | duration |
| HP:0008112 | Plantar flexion contractures |
| HP:0008111 | Broad distal hallux |
| HP:0010055 | Broad hallux |
| HP:0001837 | Broad toe |
| HP:0008110 | Equinovarus deformity |
| HP:0008116 | Flexion limitation of toes |
| HP:0008115 | Clinodactyly of the 3rd toe |
| HP:0010332 | Deviation of the 3rd toe |
| HP:0008114 | Metatarsal diaphyseal endosteal sclerosis |
| HP:0008113 | Multiple plantar creases |
| HP:0008119 | Deformed tarsal bones |
| HP:0008117 | Shortening of the talar neck |
| HP:0008365 | Abnormality of the talus |
| HP:0011769 | Ectopic parathyroid |
| http://purl.obolibrary.org/obo/UBERON_0035652 | fibular nerve |
| HP:0011770 | Tertiary hyperparathyroidism |
| HP:0011771 | Autoimmune hypoparathyroidism |
| http://purl.obolibrary.org/obo/GO_1902262 | apoptotic process involved in blood vessel morphogenesis |
| http://purl.obolibrary.org/obo/GO_0060561 | apoptotic process involved in morphogenesis |
| http://purl.obolibrary.org/obo/GO_1902742 | apoptotic process involved in development |
| HP:0011773 | Uninodular goiter |
| HP:0011775 | Thyroid macrofollicular adenoma |
| HP:0011776 | Thyroid microfollicular adenoma |
| HP:0011774 | Thyroid follicular adenoma |
| HP:0008122 | Calcaneonavicular fusion |
| HP:0008127 | Bipartite calcaneus |
| http://purl.obolibrary.org/obo/UBERON_0035649 | nerve of penis |
| HP:0008125 | Second metatarsal posteriorly placed |
| HP:0008124 | Talipes calcaneovarus |
| HP:0011777 | Thyroid papillary adenoma |
| HP:0011778 | Thyroid atypical adenoma |
| HP:0000854 | Thyroid adenoma |
| http://purl.obolibrary.org/obo/UBERON_0035648 | nerve innervating pinna |
| HP:0011779 | Anaplastic thyroid carcinoma |
| HP:0011780 | Thyroid hemiagenesis |
| HP:0011781 | Thyroid C cell hyperplasia |
| HP:0011782 | Thyroid crisis |
| HP:0011783 | Thyrotoxicosis from ectopic thyroid tissue |
| HP:0011784 | Thyrotoxicosis with diffuse goiter |
| HP:0011785 | Thyrotoxicosis with toxic multinodular goiter |
| HP:0011786 | Thyrotoxicosis with toxic single thyroid nodule |
| HP:0000836 | Hyperthyroidism |
| HP:0008141 | Dislocation of toes |
| HP:0008134 | Irregular tarsal ossification |
| HP:0008133 | Distal tapering of metatarsals |
| HP:0008132 | Medial rotation of the medial malleolus |
| HP:0008131 | Tarsal stippling |
| HP:0031051 | Tarsal sclerosis |
| HP:0100925 | Sclerosis of foot bone |
| HP:0009132 | Abnormal tarsal bone mineral density |
| http://purl.obolibrary.org/obo/UBERON_0035639 | ocular adnexa |
| HP:0008138 | Equinus calcaneus |
| HP:0011788 | Increased circulating free T3 |
| HP:0011791 | Inactivating thyroid-stimulating hormone receptor defect |
| HP:0011795 | Intralobar nephroblastomatosis |
| HP:0011796 | Perilobar nephroblastomatosis |
| HP:0008643 | Nephroblastomatosis |
| HP:0011794 | Embryonal renal neoplasm |
| HP:0011797 | Papillary renal cell carcinoma type 1 |
| HP:0006766 | Papillary renal cell carcinoma |
| HP:0011798 | Renal oncocytoma |
| HP:0008151 | Prolonged prothrombin time |
| HP:0008150 | Elevated serum transaminases during infections |
| HP:0002910 | Elevated hepatic transaminase |
| HP:0011790 | Activating thyroid-stimulating hormone receptor defect |
| HP:0011789 | Impaired sensitivity to thyroid stimulating hormone |
| HP:0008144 | Flattening of the talar dome |
| HP:0008142 | Delayed calcaneal ossification |
| HP:0008364 | Abnormality of the calcaneus |
| HP:0008148 | Impaired epinephrine-induced platelet aggregation |
| http://purl.obolibrary.org/obo/GO_0061383 | trabecula morphogenesis |
| HP:0011720 | Cardiac total anomalous pulmonary venous connection |
| HP:0011721 | Infracardiac total anomalous pulmonary venous connection |
| HP:0011722 | Mixed total anomalous pulmonary venous connection |
| HP:0011724 | Uhl's anomaly |
| HP:0011725 | Chaotic multifocal atrial tachycardia |
| HP:0011726 | Persistent fetal circulation |
| HP:0011727 | Peroneal muscle weakness |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0011728 | Elbow clonus |
| HP:0002169 | Clonus |
| http://purl.obolibrary.org/obo/GO_1902221 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process |
| HP:0011730 | Abnormal central sensory function |
| HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency |
| HP:0011737 | Corticotropin-releasing hormone deficient adrenal insufficiency |
| HP:0011738 | Corticotropin-releasing hormone receptor defect |
| http://purl.obolibrary.org/obo/UBERON_0011678 | hindlimb intermedium bone |
| http://purl.obolibrary.org/obo/UBERON_0011677 | trunk vertebra |
| http://purl.obolibrary.org/obo/UBERON_0004451 | trunk or cervical vertebra |
| HP:0011739 | Dexamethasone-suppressible primary hyperaldosteronism |
| http://purl.obolibrary.org/obo/UBERON_0011676 | subdivision of organism along main body axis |
| HP:0011740 | Glucocortocoid-insensitive primary hyperaldosteronism |
| HP:0011736 | Primary hyperaldosteronism |
| HP:0011741 | Secondary hyperaldosteronism |
| HP:0000859 | Hyperaldosteronism |
| HP:0011742 | Ectopic adrenal gland |
| HP:0011743 | Adrenal gland agenesis |
| HP:0011744 | Secondary hypercortisolism |
| HP:0011745 | Non-secretory adrenocortical adenoma |
| HP:0011746 | Secretory adrenocortical adenoma |
| HP:0011748 | Adrenocorticotropic hormone deficiency |
| HP:0011749 | Adrenocorticotropic hormone excess |
| http://purl.obolibrary.org/obo/UBERON_0035662 | parotid vein |
| HP:0011754 | Pituicytoma |
| HP:0011752 | Neoplasm of the posterior pituitary |
| HP:0008103 | Delayed tarsal ossification |
| HP:0008102 | Expanded metatarsals with widened medullary cavities |
| HP:0011755 | Ectopic posterior pituitary |
| HP:0008108 | Advanced tarsal ossification |
| HP:0008369 | Abnormal tarsal ossification |
| HP:0011756 | Posterior pituitary agenesis |
| HP:0008107 | Plantar crease between first and second toes |
| HP:0001869 | Deep plantar creases |
| http://purl.obolibrary.org/obo/UBERON_0011695 | embryonic cardiovascular system |
| http://purl.obolibrary.org/obo/UBERON_0004535 | cardiovascular system |
| HP:0011757 | Posterior pituitary hypoplasia |
| HP:0011753 | Posterior pituitary dysgenesis |
| HP:0011751 | Abnormality of the posterior pituitary |
| HP:0011758 | Pituitary acidophilic stem cell adenoma |
| HP:0011759 | Pituitary gonadotropic cell adenoma |
| http://purl.obolibrary.org/obo/PATO_0000415 | uncoiled |
| http://purl.obolibrary.org/obo/PATO_0000413 | square |
| http://purl.obolibrary.org/obo/PATO_0000414 | unbranched |
| http://purl.obolibrary.org/obo/PATO_0000411 | circular |
| http://purl.obolibrary.org/obo/PATO_0000947 | elliptic |
| http://purl.obolibrary.org/obo/UBERON_0011628 | early premaxilla |
| HP:0008198 | Congenital hypoparathyroidism |
| HP:0000829 | Hypoparathyroidism |
| HP:0008197 | Absence of pubertal development |
| http://purl.obolibrary.org/obo/PATO_0000407 | flat |
| http://purl.obolibrary.org/obo/PATO_0000404 | coiled |
| http://purl.obolibrary.org/obo/PATO_0001794 | coiling |
| http://purl.obolibrary.org/obo/PATO_0000405 | curled |
| http://purl.obolibrary.org/obo/PATO_0000402 | branched |
| http://purl.obolibrary.org/obo/PATO_0000403 | cleft |
| http://purl.obolibrary.org/obo/CHEBI_28358 | rac-lactic acid |
| http://purl.obolibrary.org/obo/CHEBI_60911 | racemate |
| http://purl.obolibrary.org/obo/CHEBI_53309 | polyanionic macromolecule |
| http://purl.obolibrary.org/obo/CHEBI_16374 | menaquinone |
| http://purl.obolibrary.org/obo/CHEBI_25185 | menaquinones |
| http://purl.obolibrary.org/obo/CHEBI_26254 | prenylnaphthoquinone |
| http://purl.obolibrary.org/obo/CHEBI_26255 | prenylquinone |
| http://purl.obolibrary.org/obo/CHEBI_28383 | alpha,omega-dicarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_28384 | vitamin K |
| http://purl.obolibrary.org/obo/UBERON_0011642 | oral epithelium from ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0011641 | odontogenic mesenchyme of molar |
| http://purl.obolibrary.org/obo/UBERON_0011645 | iliofemoralis muscle |
| http://purl.obolibrary.org/obo/PATO_0000428 | sporadic |
| http://purl.obolibrary.org/obo/PATO_0000427 | recurrent |
| http://purl.obolibrary.org/obo/CHEBI_16385 | organic sulfide |
| http://purl.obolibrary.org/obo/UBERON_0008000 | sesamoid bone of pes |
| HP:0008163 | Decreased circulating cortisol level |
| HP:0008162 | Asymptomatic hyperammonemia |
| HP:0008161 | Absent leukocyte alkaline phosphatase |
| HP:0004852 | Reduced leukocyte alkaline phosphatase |
| HP:0008160 | 3-hydroxydicarboxylic aciduria |
| HP:0008153 | Periodic hypokalemic paresis |
| HP:0008158 | Hyperapobetalipoproteinemia |
| HP:0008167 | Very long chain fatty acid accumulation |
| HP:0008166 | Decreased beta-galactosidase activity |
| HP:0004342 | Abnormality of galactoside metabolism |
| HP:0003649 | Abnormality of glycoside metabolism |
| HP:0008165 | Decreased helper T cell proportion |
| HP:0500263 | Abnormal helper T cell proportion |
| http://purl.obolibrary.org/obo/UBERON_0035606 | cartilage of external acoustic meatus |
| http://purl.obolibrary.org/obo/UBERON_0035608 | dura mater lymph vessel |
| HP:0008169 | Reduced factor VII activity |
| HP:0008181 | Abetalipoproteinemia |
| HP:0003563 | Decreased LDL cholesterol concentration |
| HP:0008180 | Mildly elevated creatine kinase |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4268 | CBLIF (human) |
| http://purl.obolibrary.org/obo/CHEBI_53368 | ionic macromolecule |
| HP:0008185 | Precocious puberty in males |
| HP:0008182 | Adrenocortical hypoplasia |
| HP:0000849 | Adrenocortical abnormality |
| HP:0008178 | Abnormal cartilage matrix |
| http://purl.obolibrary.org/obo/UBERON_0011606 | hyomandibular bone |
| HP:0008176 | Neonatal unconjugated hyperbilirubinemia |
| HP:0008179 | Decreased Arden ratio of electrooculogram |
| http://purl.obolibrary.org/obo/UBERON_0011607 | hyomandibular cartilage |
| http://purl.obolibrary.org/obo/UBERON_0011608 | hyomandibular element |
| http://purl.obolibrary.org/obo/UBERON_0011602 | gingiva of lower jaw |
| http://purl.obolibrary.org/obo/UBERON_0011601 | gingiva of upper jaw |
| HP:0008191 | Thyroid agenesis |
| HP:0008194 | Multiple pancreatic beta-cell adenomas |
| http://purl.obolibrary.org/obo/PATO_0000460 | abnormal |
| HP:0008193 | Primary gonadal insufficiency |
| http://purl.obolibrary.org/obo/PATO_0000461 | normal |
| HP:0008189 | Insulin insensitivity |
| HP:0008187 | Absence of secondary sex characteristics |
| HP:0008186 | Adrenocortical cytomegaly |
| http://purl.obolibrary.org/obo/CHEBI_90318 | EC 6.4.1.1 (pyruvate carboxylase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76824 | EC 6.4.1.* (carboxylase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_75604 | EC 6.4.* (C-C bond-forming ligase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_16313 | D-proline |
| http://purl.obolibrary.org/obo/CHEBI_26271 | proline |
| http://purl.obolibrary.org/obo/CHEBI_16733 | D-alpha-amino acid |
| http://purl.obolibrary.org/obo/GO_0051919 | positive regulation of fibrinolysis |
| http://purl.obolibrary.org/obo/GO_0051918 | negative regulation of fibrinolysis |
| http://purl.obolibrary.org/obo/GO_0051917 | regulation of fibrinolysis |
| http://purl.obolibrary.org/obo/CHEBI_28300 | glutamine |
| http://purl.obolibrary.org/obo/CL_0011001 | spinal cord motor neuron |
| http://purl.obolibrary.org/obo/CL_2000029 | central nervous system neuron |
| http://purl.obolibrary.org/obo/CL_0000100 | motor neuron |
| http://purl.obolibrary.org/obo/CL_0000527 | efferent neuron |
| http://purl.obolibrary.org/obo/CL_0011007 | paraxial cell |
| http://purl.obolibrary.org/obo/CL_0000222 | mesodermal cell |
| http://purl.obolibrary.org/obo/PATO_0000617 | bent |
| http://purl.obolibrary.org/obo/PATO_0000618 | bilateral |
| http://purl.obolibrary.org/obo/CL_1000123 | metanephric nephron tubule epithelial cell |
| http://purl.obolibrary.org/obo/CL_1000507 | kidney tubule cell |
| http://purl.obolibrary.org/obo/CL_1000449 | epithelial cell of nephron |
| http://purl.obolibrary.org/obo/CL_0002518 | kidney epithelial cell |
| http://purl.obolibrary.org/obo/CL_1000497 | kidney cell |
| http://purl.obolibrary.org/obo/PATO_0000616 | asymmetrical |
| http://purl.obolibrary.org/obo/PATO_0000613 | disoriented |
| http://purl.obolibrary.org/obo/PATO_0000330 | irregular spatial pattern |
| http://purl.obolibrary.org/obo/CL_0011021 | fibroblast of upper back skin |
| http://purl.obolibrary.org/obo/CL_0011022 | fibroblast of skin of back |
| http://purl.obolibrary.org/obo/CL_0002620 | skin fibroblast |
| http://purl.obolibrary.org/obo/CL_0000057 | fibroblast |
| http://purl.obolibrary.org/obo/CL_0002320 | connective tissue cell |
| http://purl.obolibrary.org/obo/CL_0011012 | neural crest cell |
| http://purl.obolibrary.org/obo/CL_0000048 | multi fate stem cell |
| http://purl.obolibrary.org/obo/CL_0000034 | stem cell |
| http://purl.obolibrary.org/obo/CL_0002321 | embryonic cell |
| http://purl.obolibrary.org/obo/CL_0011016 | flagellated sperm cell |
| http://purl.obolibrary.org/obo/CL_0011013 | motile sperm cell |
| http://purl.obolibrary.org/obo/CL_0000019 | sperm |
| http://purl.obolibrary.org/obo/CL_0000408 | male gamete |
| http://purl.obolibrary.org/obo/CL_0000015 | male germ cell |
| http://purl.obolibrary.org/obo/CL_0000300 | gamete |
| http://purl.obolibrary.org/obo/CL_0000413 | haploid cell |
| http://purl.obolibrary.org/obo/CL_0000586 | germ cell |
| http://purl.obolibrary.org/obo/CL_0000039 | germ line cell |
| http://purl.obolibrary.org/obo/PATO_0000619 | crowded |
| http://purl.obolibrary.org/obo/CL_0011019 | mesothelial cell of epicardium |
| http://purl.obolibrary.org/obo/CL_0002494 | cardiocyte |
| http://purl.obolibrary.org/obo/CL_0000077 | mesothelial cell |
| http://purl.obolibrary.org/obo/CL_0000213 | lining cell |
| http://purl.obolibrary.org/obo/CL_0000215 | barrier cell |
| http://purl.obolibrary.org/obo/CL_0000076 | squamous epithelial cell |
| http://purl.obolibrary.org/obo/CL_0002078 | meso-epithelial cell |
| http://purl.obolibrary.org/obo/CL_0000066 | epithelial cell |
| http://purl.obolibrary.org/obo/PATO_0000600 | increased width |
| http://purl.obolibrary.org/obo/CL_0011023 | CD25+ mast cell |
| http://purl.obolibrary.org/obo/CL_0001063 | neoplastic cell |
| http://purl.obolibrary.org/obo/CL_0001061 | abnormal cell |
| http://purl.obolibrary.org/obo/CL_0011024 | double negative T regulatory cell |
| http://purl.obolibrary.org/obo/CL_0002489 | double negative thymocyte |
| http://purl.obolibrary.org/obo/CL_0000893 | thymocyte |
| http://purl.obolibrary.org/obo/CL_0002420 | immature T cell |
| http://purl.obolibrary.org/obo/CL_0000084 | T cell |
| http://purl.obolibrary.org/obo/CL_0000542 | lymphocyte |
| http://purl.obolibrary.org/obo/CL_0000842 | mononuclear cell |
| http://purl.obolibrary.org/obo/CL_0000738 | leukocyte |
| http://purl.obolibrary.org/obo/CL_0000219 | motile cell |
| http://purl.obolibrary.org/obo/CL_0000226 | single nucleate cell |
| http://purl.obolibrary.org/obo/PATO_0000608 | closed |
| http://purl.obolibrary.org/obo/PATO_0000609 | closure incomplete |
| http://purl.obolibrary.org/obo/PATO_0000610 | open |
| http://purl.obolibrary.org/obo/PATO_0000136 | closure |
| http://purl.obolibrary.org/obo/PATO_0000639 | degenerate |
| http://purl.obolibrary.org/obo/PATO_0000635 | unlocalised |
| http://purl.obolibrary.org/obo/PATO_0000633 | uncrowded |
| http://purl.obolibrary.org/obo/PATO_0000634 | unilateral |
| http://purl.obolibrary.org/obo/PATO_0000632 | symmetrical |
| http://purl.obolibrary.org/obo/PATO_0000965 | symmetry |
| http://purl.obolibrary.org/obo/PATO_0000627 | localized |
| http://purl.obolibrary.org/obo/PATO_0000625 | inverted |
| http://purl.obolibrary.org/obo/PATO_0000623 | exserted |
| http://purl.obolibrary.org/obo/GO_0036385 | nucleoid DNA packaging |
| HP:0011928 | Short proximal phalanx of toe |
| HP:0010184 | Abnormality of toe proximal phalanx |
| HP:0011929 | Hypersegmentation of proximal phalanx of third finger |
| HP:0011920 | Transudative pleural effusion |
| HP:0011921 | Exudative pleural effusion |
| http://purl.obolibrary.org/obo/GO_0061311 | cell surface receptor signaling pathway involved in heart development |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0011925 | Decreased activity of mitochondrial ATP synthase complex |
| HP:0008972 | Decreased activity of mitochondrial respiratory chain |
| HP:0011926 | Proximal placement of hallux |
| HP:0011930 | Hyperextensible skin of chest |
| HP:0011939 | 3-4 finger cutaneous syndactyly |
| HP:0011933 | Elongated superior cerebellar peduncle |
| HP:0011934 | Dilatation of mesenteric artery |
| HP:0002636 | Dilatation of an abdominal artery |
| HP:0011935 | Decreased urinary urate |
| HP:0011936 | Decreased plasma total carnitine |
| HP:0011937 | Hypoplastic fifth toenail |
| HP:0001800 | Hypoplastic toenails |
| HP:0010624 | Aplastic/hypoplastic toenail |
| HP:0001792 | Small nail |
| HP:0008386 | Aplasia/Hypoplasia of the nails |
| http://purl.obolibrary.org/obo/GO_0051985 | negative regulation of chromosome segregation |
| HP:0011940 | Anterior wedging of T12 |
| HP:0011941 | Anterior wedging of L2 |
| HP:0008422 | Vertebral wedging |
| http://purl.obolibrary.org/obo/GO_0051984 | positive regulation of chromosome segregation |
| http://purl.obolibrary.org/obo/GO_0051983 | regulation of chromosome segregation |
| http://purl.obolibrary.org/obo/GO_0000313 | organellar ribosome |
| http://purl.obolibrary.org/obo/GO_0005840 | ribosome |
| HP:0011942 | Increased urinary sulfite |
| HP:0011943 | Increased urinary thiosulfate |
| HP:0011944 | Small vessel vasculitis |
| HP:0011945 | Bronchiolitis obliterans organizing pneumonia |
| HP:0011946 | Bronchiolitis obliterans |
| http://purl.obolibrary.org/obo/UBERON_0035597 | profundal placode |
| http://purl.obolibrary.org/obo/UBERON_0009955 | neurogenic placode |
| http://purl.obolibrary.org/obo/UBERON_0002546 | cranial placode |
| http://purl.obolibrary.org/obo/UBERON_0005085 | ectodermal placode |
| HP:0011949 | Acute infectious pneumonia |
| HP:0011950 | Bronchiolitis |
| HP:0011948 | Recurrent acute respiratory tract infection |
| HP:0011952 | Acute aspiration pneumonia |
| HP:0011951 | Aspiration pneumonia |
| HP:0002090 | Pneumonia |
| http://purl.obolibrary.org/obo/GO_0051971 | positive regulation of transmission of nerve impulse |
| http://purl.obolibrary.org/obo/GO_0031646 | positive regulation of nervous system process |
| http://purl.obolibrary.org/obo/GO_0051970 | negative regulation of transmission of nerve impulse |
| http://purl.obolibrary.org/obo/GO_0031645 | negative regulation of nervous system process |
| HP:0008303 | Olivary degeneration |
| HP:0008301 | Dermatan sulfate excretion in urine |
| HP:0008155 | Mucopolysacchariduria |
| HP:0003541 | Urinary glycosaminoglycan excretion |
| HP:0011953 | Pulmonary lymphoma |
| HP:0008306 | Abnormal iron deposition in mitochondria |
| HP:0011954 | Nodular regenerative hyperplasia of liver |
| HP:0011955 | Hepatic granulomatosis |
| HP:0008305 | Exercise-induced myoglobinuria |
| HP:0002913 | Myoglobinuria |
| HP:0011956 | Intestinal lymphoid nodular hyperplasia |
| HP:0011958 | Retinal perforation |
| HP:0008309 | Medium chain dicarboxylic aciduria |
| HP:0011959 | Unilateral hypoplasia of pectoralis major muscle |
| http://purl.obolibrary.org/obo/GO_0051969 | regulation of transmission of nerve impulse |
| http://purl.obolibrary.org/obo/GO_0000323 | lytic vacuole |
| http://purl.obolibrary.org/obo/GO_0005773 | vacuole |
| http://purl.obolibrary.org/obo/GO_0043231 | intracellular membrane-bounded organelle |
| HP:0011906 | Reduced beta/alpha synthesis ratio |
| HP:0011907 | Reduced alpha/beta synthesis ratio |
| HP:0011908 | Unilateral radial aplasia |
| HP:0003974 | Absent radius |
| HP:0006501 | Aplasia/Hypoplasia of the radius |
| HP:0011909 | Flattened metacarpal heads |
| HP:0011900 | Hypofibrinogenemia |
| HP:0011901 | Dysfibrinogenemia |
| HP:0011903 | HbH hemoglobin |
| HP:0011904 | Persistence of hemoglobin F |
| HP:0011905 | Reduced hemoglobin A |
| http://purl.obolibrary.org/obo/GO_0051931 | regulation of sensory perception |
| http://purl.obolibrary.org/obo/GO_0031644 | regulation of nervous system process |
| HP:0011917 | Short 5th toe |
| HP:0011918 | Clinodactyly of the 4th toe |
| HP:0010338 | Deviation of the 4th toe |
| HP:0011919 | Pleural empyema |
| HP:0002202 | Pleural effusion |
| HP:0011910 | Shortening of all phalanges of fingers |
| HP:0011912 | Abnormality of the glenoid fossa |
| HP:0000782 | Abnormality of the scapula |
| HP:0011913 | Lumbar hypertrichosis |
| HP:0011914 | Thoracic hypertrichosis |
| HP:0011916 | Toe extensor amyotrophy |
| HP:0001436 | Abnormality of the foot musculature |
| HP:0011880 | Acute disseminated intravascular coagulation |
| HP:0011881 | Decreased platelet glycoprotein VI |
| HP:0011882 | Decreased platelet P2Y12 receptor |
| http://purl.obolibrary.org/obo/UBERON_0011583 | stylopodial skeleton |
| HP:0011884 | Abnormal umbilical stump bleeding |
| HP:0011886 | Hyphema |
| http://purl.obolibrary.org/obo/PR_P51683 | C-C chemokine receptor type 2 (mouse) |
| HP:0008240 | Secondary growth hormone deficiency |
| HP:0000824 | Growth hormone deficiency |
| HP:0008233 | Decreased circulating progesterone |
| HP:0031212 | Abnormal circulating progesterone level |
| HP:0008232 | Elevated circulating follicle stimulating hormone level |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0010514 | Hyperpituitarism |
| HP:0008231 | Macronodular adrenal hyperplasia |
| http://purl.obolibrary.org/obo/PR_P51677 | C-C chemokine receptor type 3 (human) |
| HP:0008237 | Hypothalamic hypothyroidism |
| http://purl.obolibrary.org/obo/PR_P51678 | probable C-C chemokine receptor type 3 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001255 | C-C chemokine receptor type 3 |
| http://purl.obolibrary.org/obo/UBERON_0035539 | esophageal artery |
| HP:0008236 | Isosexual precocious puberty |
| http://purl.obolibrary.org/obo/PR_P51675 | C-C chemokine receptor type 1 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001254 | C-C chemokine receptor type 1 |
| http://purl.obolibrary.org/obo/PR_000001197 | chemokine receptor CCR1/3/1L |
| http://purl.obolibrary.org/obo/UBERON_0011587 | pre-dentine |
| HP:0011887 | Choroid hemorrhage |
| HP:0011888 | Bleeding requiring red cell transfusion |
| HP:0008239 | Adrenal medullary hypoplasia |
| HP:0011889 | Bleeding with minor or no trauma |
| http://purl.obolibrary.org/obo/UBERON_0011584 | zeugopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_0011588 | pre-enamel |
| http://purl.obolibrary.org/obo/UBERON_0011590 | commissure of diencephalon |
| HP:0011891 | Post-partum hemorrhage |
| HP:0011892 | Low levels of vitamin K |
| HP:0100831 | Abnormality of vitamin K metabolism |
| HP:0011894 | Impaired thromboxane A2 agonist-induced platelet aggregation |
| http://purl.obolibrary.org/obo/UBERON_0011592 | future upper lip |
| HP:0011896 | Subconjunctival hemorrhage |
| HP:0008251 | Congenital goiter |
| HP:0008250 | Infantile hypercalcemia |
| HP:0008244 | Congenital adrenal hypoplasia |
| HP:0000835 | Adrenal hypoplasia |
| HP:0008242 | Pseudohypoaldosteronism |
| http://purl.obolibrary.org/obo/UBERON_0035529 | left common iliac artery |
| HP:0008247 | Euthyroid hyperthyroxinemia |
| http://purl.obolibrary.org/obo/CHEBI_65256 | antimicrobial food preservative |
| http://purl.obolibrary.org/obo/CHEBI_65255 | food preservative |
| http://purl.obolibrary.org/obo/CHEBI_64047 | food additive |
| HP:0008245 | Pituitary hypothyroidism |
| HP:0011787 | Central hypothyroidism |
| HP:0011899 | Hyperfibrinogenemia |
| HP:0011898 | Abnormality of circulating fibrinogen |
| http://purl.obolibrary.org/obo/UBERON_0011596 | future lower lip |
| http://purl.obolibrary.org/obo/UBERON_0011595 | jaw region |
| http://purl.obolibrary.org/obo/UBERON_0035523 | anterior surface of prostate |
| HP:0008261 | Pancreatic islet cell adenoma |
| HP:0006476 | Abnormality of the pancreatic islet cells |
| HP:0012093 | Abnormality of endocrine pancreas physiology |
| HP:0002894 | Neoplasm of the pancreas |
| HP:0008255 | Transient neonatal diabetes mellitus |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus |
| HP:0000831 | Insulin-resistant diabetes mellitus |
| HP:0000855 | Insulin resistance |
| HP:0008259 | Adrenocorticotropin receptor defect |
| HP:0011734 | Central adrenal insufficiency |
| HP:0008258 | Congenital adrenal hyperplasia |
| HP:0008256 | Adrenocortical adenoma |
| HP:0100641 | Neoplasm of the adrenal cortex |
| HP:0100631 | Neoplasm of the adrenal gland |
| HP:0008273 | Transient aminoaciduria |
| HP:0008272 | Renal tubular lysine transport defect |
| HP:0008271 | Abnormal cartilage collagen |
| HP:0008265 | Mitochondrial lysine transport defect |
| HP:0008263 | Thyroid defect in oxidation and organification of iodide |
| HP:0008269 | Increased red cell hemolysis by shear stress |
| http://purl.obolibrary.org/obo/CHEBI_53291 | 2-halophenol |
| HP:0011841 | Ventricular flutter |
| HP:0004756 | Ventricular tachycardia |
| HP:0001649 | Tachycardia |
| HP:0011845 | Short second metatarsal |
| HP:0011846 | Osteoblastoma |
| HP:0011847 | Giant cell tumor of bone |
| HP:0011848 | Abdominal colic |
| http://purl.obolibrary.org/obo/GO_1902340 | negative regulation of chromosome condensation |
| http://purl.obolibrary.org/obo/GO_0060623 | regulation of chromosome condensation |
| http://purl.obolibrary.org/obo/GO_2001251 | negative regulation of chromosome organization |
| http://purl.obolibrary.org/obo/GO_0033044 | regulation of chromosome organization |
| HP:0011850 | Parotitis |
| HP:0011851 | Hemopericardium |
| HP:0011852 | Chylopericardium |
| HP:0011853 | Serous pericardial effusion |
| HP:0001698 | Pericardial effusion |
| HP:0008200 | Primary hyperparathyroidism |
| HP:0000843 | Hyperparathyroidism |
| HP:0011767 | Abnormality of the parathyroid physiology |
| HP:0008204 | Precocious puberty with Sertoli cell tumor |
| HP:0100619 | Sertoli cell neoplasm |
| HP:0000826 | Precocious puberty |
| HP:0100000 | Early onset of sexual maturation |
| HP:0008202 | Reduced circulating prolactin concentration |
| HP:0008208 | Parathyroid hyperplasia |
| HP:0011854 | Hemoperitoneum |
| HP:0008207 | Primary adrenal insufficiency |
| HP:0000846 | Adrenal insufficiency |
| HP:0011855 | Pharyngeal edema |
| HP:0011856 | Pica |
| HP:0008205 | Insulin-dependent but ketosis-resistant diabetes |
| HP:0011857 | Plasmacytoma |
| HP:0011858 | Reduced factor IX activity |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4191 | GCG (human) |
| HP:0011859 | Punctate keratitis |
| HP:0000491 | Keratitis |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0031066 | Abnormal ovarian physiology |
| http://purl.obolibrary.org/obo/UBERON_0035550 | superficial vein |
| http://purl.obolibrary.org/obo/UBERON_0035552 | deep vein |
| http://purl.obolibrary.org/obo/UBERON_0035551 | deep vasculature |
| HP:0011860 | Metaphyseal dappling |
| HP:0011861 | Bilateral trilobed lungs |
| HP:0002101 | Abnormal lung lobation |
| HP:0011862 | Abnormal bone collagen fibril morphology |
| HP:0011863 | Abnormal sternal ossification |
| HP:0011864 | Elevated plasma pyrophosphate |
| http://purl.obolibrary.org/obo/GO_1902339 | positive regulation of apoptotic process involved in morphogenesis |
| http://purl.obolibrary.org/obo/GO_1904747 | positive regulation of apoptotic process involved in development |
| http://purl.obolibrary.org/obo/GO_0043065 | positive regulation of apoptotic process |
| http://purl.obolibrary.org/obo/GO_0043068 | positive regulation of programmed cell death |
| http://purl.obolibrary.org/obo/GO_1902338 | negative regulation of apoptotic process involved in morphogenesis |
| http://purl.obolibrary.org/obo/GO_1904746 | negative regulation of apoptotic process involved in development |
| http://purl.obolibrary.org/obo/GO_0043066 | negative regulation of apoptotic process |
| http://purl.obolibrary.org/obo/GO_0043069 | negative regulation of programmed cell death |
| http://purl.obolibrary.org/obo/GO_0060548 | negative regulation of cell death |
| http://purl.obolibrary.org/obo/GO_1902337 | regulation of apoptotic process involved in morphogenesis |
| http://purl.obolibrary.org/obo/GO_1904748 | regulation of apoptotic process involved in development |
| http://purl.obolibrary.org/obo/GO_0042981 | regulation of apoptotic process |
| http://purl.obolibrary.org/obo/GO_0043067 | regulation of programmed cell death |
| HP:0008211 | Parathyroid agenesis |
| HP:0011768 | Parathyroid dysgenesis |
| HP:0011766 | Abnormality of the parathyroid morphology |
| HP:0000828 | Abnormality of the parathyroid gland |
| HP:0008214 | Decreased serum estradiol |
| HP:0025133 | Abnormal serum estradiol |
| HP:0025132 | Abnormal circulating estrogen level |
| HP:0008213 | Gonadotropin deficiency |
| http://purl.obolibrary.org/obo/UBERON_0011565 | lumen of gastrointestinal system |
| HP:0008216 | Adrenal gland dysgenesis |
| HP:0011868 | Sciatica |
| http://purl.obolibrary.org/obo/UBERON_0035554 | right cardiac chamber |
| http://purl.obolibrary.org/obo/UBERON_0035553 | left cardiac chamber |
| http://purl.obolibrary.org/obo/UBERON_0011566 | lumen of esophagus |
| HP:0011870 | Impaired arachidonic acid-induced platelet aggregation |
| HP:0011871 | Impaired ristocetin-induced platelet aggregation |
| HP:0011872 | Impaired thrombin-induced platelet aggregation |
| HP:0003540 | Impaired platelet aggregation |
| HP:0011874 | Heparin-induced thrombocytopenia |
| HP:0008222 | Female infertility |
| HP:0000868 | Decreased fertility in females |
| HP:0008221 | Adrenal hyperplasia |
| HP:0011732 | Abnormality of adrenal morphology |
| HP:0008226 | Androgen insufficiency |
| HP:0008225 | Thyroid follicular hyperplasia |
| HP:0008249 | Thyroid hyperplasia |
| http://purl.obolibrary.org/obo/GO_0002922 | positive regulation of humoral immune response |
| http://purl.obolibrary.org/obo/GO_0050778 | positive regulation of immune response |
| http://purl.obolibrary.org/obo/GO_0002921 | negative regulation of humoral immune response |
| http://purl.obolibrary.org/obo/GO_0050777 | negative regulation of immune response |
| http://purl.obolibrary.org/obo/GO_0002920 | regulation of humoral immune response |
| http://purl.obolibrary.org/obo/GO_0050776 | regulation of immune response |
| HP:0008223 | Compensated hypothyroidism |
| HP:0000821 | Hypothyroidism |
| http://purl.obolibrary.org/obo/UBERON_0011576 | supraorbital ridge |
| http://purl.obolibrary.org/obo/UBERON_0035546 | uveal vein |
| HP:0008229 | Thyroid lymphangiectasia |
| http://purl.obolibrary.org/obo/UBERON_0011575 | styloid process of ulna |
| http://purl.obolibrary.org/obo/UBERON_0035549 | vasculature of integument |
| http://purl.obolibrary.org/obo/UBERON_0011574 | mesonephric duct lumen |
| http://purl.obolibrary.org/obo/UBERON_0005082 | tube lumen |
| http://purl.obolibrary.org/obo/UBERON_0035548 | colic artery |
| HP:0008227 | Pituitary resistance to thyroid hormone |
| HP:0011879 | Decreased platelet glycoprotein Ib-IX-V |
| HP:0011878 | Abnormal platelet membrane protein expression |
| http://purl.obolibrary.org/obo/UBERON_0035545 | deep lymphatic vessel |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4164 | GAST (human) |
| http://purl.obolibrary.org/obo/CHEBI_16285 | phytanic acid |
| http://purl.obolibrary.org/obo/CHEBI_15904 | long-chain fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_39417 | branched-chain saturated fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_26607 | saturated fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_62499 | methyl-branched fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_35819 | branched-chain fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_28260 | galactose |
| http://purl.obolibrary.org/obo/CHEBI_33917 | aldohexose |
| http://purl.obolibrary.org/obo/CHEBI_18133 | hexose |
| http://purl.obolibrary.org/obo/CHEBI_15693 | aldose |
| http://purl.obolibrary.org/obo/GO_1990904 | ribonucleoprotein complex |
| http://purl.obolibrary.org/obo/PATO_0000547 | photosensitive |
| http://purl.obolibrary.org/obo/PATO_0000546 | photoinsensitive |
| http://purl.obolibrary.org/obo/PATO_0000927 | photosensitivity |
| http://purl.obolibrary.org/obo/PATO_0000085 | sensitivity toward |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4171 | GATA2 (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4170 | GATA1 (human) |
| HP:0008283 | Fasting hyperinsulinemia |
| HP:0000842 | Hyperinsulinemia |
| HP:0008282 | Unconjugated hyperbilirubinemia |
| http://purl.obolibrary.org/obo/PATO_0000570 | increased height |
| HP:0008281 | Acute hyperammonemia |
| HP:0001987 | Hyperammonemia |
| HP:0008277 | Abnormal blood zinc concentration |
| HP:0008279 | Transient hyperlipidemia |
| HP:0008278 | Cerebellar cortical atrophy |
| http://purl.obolibrary.org/obo/PATO_0000569 | decreased height |
| http://purl.obolibrary.org/obo/PATO_0000119 | height |
| HP:0008291 | Pituitary corticotropic cell adenoma |
| HP:0002893 | Pituitary adenoma |
| HP:0011750 | Neoplasm of the anterior pituitary |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=4116 | GALE (human) |
| HP:0008290 | Partial complement factor H deficiency |
| HP:0008293 | Long-chain dicarboxylic aciduria |
| HP:0008288 | Nonketotic hyperglycinemia |
| HP:0002154 | Hyperglycinemia |
| HP:0008285 | Transient hypophosphatemia |
| HP:0002148 | Hypophosphatemia |
| HP:0100529 | Abnormal blood phosphate concentration |
| http://purl.obolibrary.org/obo/GO_0097237 | cellular response to toxic substance |
| http://purl.obolibrary.org/obo/PATO_0000599 | decreased width |
| http://purl.obolibrary.org/obo/PATO_0000921 | width |
| http://purl.obolibrary.org/obo/PATO_0000592 | decreased thickness |
| HP:0008297 | Transient hyperphenylalaninemia |
| http://purl.obolibrary.org/obo/PATO_0000585 | hypotrophic |
| http://purl.obolibrary.org/obo/PATO_0000596 | decreased volume |
| http://purl.obolibrary.org/obo/PATO_0000583 | decreased weight |
| http://purl.obolibrary.org/obo/PATO_0000584 | hypertrophic |
| http://purl.obolibrary.org/obo/PATO_0000582 | increased weight |
| http://purl.obolibrary.org/obo/PATO_0000128 | weight |
| http://purl.obolibrary.org/obo/PATO_0000591 | increased thickness |
| http://purl.obolibrary.org/obo/PATO_0000915 | thickness |
| http://purl.obolibrary.org/obo/GO_0009072 | aromatic amino acid family metabolic process |
| http://purl.obolibrary.org/obo/NBO_0000134 | food consumption |
| http://purl.obolibrary.org/obo/NBO_0000130 | liquid consumption |
| http://purl.obolibrary.org/obo/GO_0009064 | glutamine family amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0009066 | aspartate family amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0009069 | serine family amino acid metabolic process |
| http://purl.obolibrary.org/obo/NBO_0000129 | agitation behavior |
| http://purl.obolibrary.org/obo/NBO_0000128 | irritability behavior |
| http://purl.obolibrary.org/obo/NBO_0000121 | agonistic behavior |
| http://purl.obolibrary.org/obo/NBO_0000120 | physical aggression behavior |
| http://purl.obolibrary.org/obo/GO_0009060 | aerobic respiration |
| http://purl.obolibrary.org/obo/GO_0045333 | cellular respiration |
| http://purl.obolibrary.org/obo/GO_0015980 | energy derivation by oxidation of organic compounds |
| http://purl.obolibrary.org/obo/GO_0055114 | oxidation-reduction process |
| HP:0032099 | Perioral radial furrowing |
| HP:0032098 | Hypomanganesemia |
| HP:0032097 | Hypermanganesemia |
| HP:0032092 | Left ventricular outflow tract obstruction |
| HP:0032091 | Translamellar aortic medial fibrosis |
| HP:0032090 | Intralamellar aortic medial fibrosis |
| HP:0032096 | Abnormal manganese concentration |
| HP:0032094 | Increased circulating surfactant protein level |
| http://purl.obolibrary.org/obo/NBO_0000144 | mating frequency |
| http://purl.obolibrary.org/obo/NBO_0000142 | food aversion |
| http://purl.obolibrary.org/obo/NBO_0000141 | food preference |
| http://purl.obolibrary.org/obo/NBO_0000135 | food preference/aversion |
| http://purl.obolibrary.org/obo/GO_0009081 | branched-chain amino acid metabolic process |
| http://www.informatics.jax.org/marker/MGI:97489 | Pax5 (mouse) |
| http://www.informatics.jax.org/marker/MGI:97473 | Pah (mouse) |
| http://purl.obolibrary.org/obo/PR_000026291 | unmodified amino-acid residue |
| http://purl.obolibrary.org/obo/NBO_0000119 | impulsive behavior |
| http://purl.obolibrary.org/obo/CHEBI_134249 | alkanesulfonate oxoanion |
| http://purl.obolibrary.org/obo/CHEBI_33554 | organosulfonate oxoanion |
| http://purl.obolibrary.org/obo/CHEBI_134251 | guaiacols |
| http://purl.obolibrary.org/obo/CHEBI_25235 | monomethoxybenzene |
| http://purl.obolibrary.org/obo/CHEBI_51683 | methoxybenzenes |
| HP:0009721 | Shagreen patch |
| HP:0100898 | Connective tissue nevi |
| HP:0009722 | Dental enamel pits |
| HP:0000682 | Abnormality of dental enamel |
| HP:3000050 | Abnormality of odontoid tissue |
| HP:0009720 | Adenoma sebaceum |
| HP:0010615 | Angiofibromas |
| HP:0009725 | Bladder neoplasm |
| HP:0009724 | Subungual fibromas |
| HP:0010713 | 1-5 toe syndactyly |
| HP:0010712 | 1-4 toe syndactyly |
| HP:0001459 | 1-3 toe syndactyly |
| HP:0010711 | 1-2 toe syndactyly |
| HP:0009729 | Cardiac rhabdomyoma |
| HP:0100544 | Neoplasm of the heart |
| HP:0010715 | 2-5 toe syndactyly |
| HP:0010714 | 2-4 toe syndactyly |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0009727 | Achromatic retinal patches |
| HP:0010716 | 3-5 toe syndactyly |
| HP:0004692 | 4-5 toe syndactyly |
| HP:0010717 | Osseous syndactyly of toes |
| http://purl.obolibrary.org/obo/UBERON_0035483 | left suprarenal vein |
| HP:0430008 | Accessory eyelid |
| HP:0010729 | Cherry red spot of the macula |
| HP:0430002 | Abnormality of the lacrimal bone |
| HP:0009732 | Plexiform neurofibroma |
| HP:0430005 | Abnormality of ethmoid bone |
| HP:0430004 | Frontomalar faciosynostosis |
| HP:0430007 | Symblepharon |
| HP:0009730 | Rhabdomyoma |
| HP:0009728 | Neoplasm of striated muscle |
| HP:0430006 | Ectopic cilia of eyelid |
| HP:0009736 | Tibial pseudarthrosis |
| HP:0009737 | Lisch nodules |
| HP:0009734 | Optic nerve glioma |
| HP:0010723 | Cystic lesions of the pinnae |
| HP:0009735 | Spinal neurofibromas |
| HP:0010724 | Advanced pneumatization of the mastoid process |
| HP:0010726 | Prominent corneal nerve fibers |
| HP:0010727 | Spontaneous rupture of the globe |
| HP:0009739 | Hypoplasia of the antihelix |
| HP:0009738 | Abnormality of the antihelix |
| HP:0010728 | Aplasia of the retina |
| http://purl.obolibrary.org/obo/UBERON_0035471 | posterior surface of kidney |
| HP:0010730 | Double eyebrow |
| HP:0010731 | Extension of eyebrows towards upper eyelid |
| HP:0430012 | Incomplete ossification of palatine bone |
| HP:0430011 | Defect of palpebral conjunctiva |
| HP:0009740 | Aplasia of the parotid gland |
| HP:0000197 | Abnormal parotid gland morphology |
| HP:0430013 | Absent palatine bone ossification |
| HP:0430003 | Abnormality of the palatine bone |
| HP:0430016 | Abnormality of tensor veli palatini muscle |
| HP:0009743 | Distichiasis |
| HP:0008496 | Multiple rows of eyelashes |
| HP:0430015 | Abnormal morphology of musculature of pharynx |
| HP:0009744 | Abnormal spinal dura mater morphology |
| HP:0430018 | Abnormality of nasal musculature |
| HP:0009741 | Nephrosclerosis |
| HP:0430017 | Abnormality of uvular muscle |
| HP:0430014 | Abnormality of musculature of soft palate |
| HP:0009742 | Stiff shoulders |
| http://purl.obolibrary.org/obo/GO_0048699 | generation of neurons |
| HP:0009747 | Lumbosacral hirsutism |
| HP:0010732 | Nodular changes affecting the eyelids |
| HP:0009748 | Large earlobe |
| HP:0010733 | Naevus flammeus of the eyelid |
| HP:0009745 | Spinalarachnoid cyst |
| HP:0100702 | Arachnoid cyst |
| HP:0100700 | Abnormal arachnoid mater morphology |
| HP:0009746 | Thick nasal septum |
| HP:0010735 | Polyostotic fibrous dysplasia |
| HP:0010736 | Monostotic fibrous dysplasia |
| HP:0010734 | Fibrous dysplasia of the bones |
| HP:0430010 | Microblepharia |
| HP:0010739 | Osteopoikilosis |
| http://purl.obolibrary.org/obo/GO_0046031 | ADP metabolic process |
| http://purl.obolibrary.org/obo/GO_0046034 | ATP metabolic process |
| HP:0010740 | Osteopathia striata |
| HP:0031367 | Metaphyseal striations |
| HP:0010741 | Pedal edema |
| HP:0010742 | Edema of the upper limbs |
| HP:0430023 | Abnormality of the maxillary sinus |
| HP:0430022 | Abnormality of the sphenoid sinus |
| HP:0009751 | Aplasia of the pectoralis major muscle |
| HP:0430025 | Bilateral facial palsy |
| HP:0430024 | Abnormality of external jugular vein |
| HP:3000042 | Abnormal jugular vein morphology |
| HP:3000037 | Abnormality of neck blood vessel |
| HP:0009754 | Fibrous syngnathia |
| HP:0430026 | Abnormality of the shape of the midface |
| HP:0009755 | Ankyloblepharon |
| HP:0430029 | Hyperplasia of the premaxilla |
| HP:0009752 | Cleft in skull base |
| HP:0430028 | Hyperplasia of the maxilla |
| HP:0009758 | Pyramidal skinfold extending from the base to the top of the nails |
| HP:0010743 | Short metatarsal |
| HP:0009759 | Neck pterygia |
| HP:0010744 | Absent metatarsal bone |
| HP:0009756 | Popliteal pterygium |
| HP:0009757 | Intercrural pterygium |
| HP:0010746 | Hypoplasia of the phalanges of the toes |
| http://purl.obolibrary.org/obo/CHEBI_58465 | dermatan sulfate polyanion |
| HP:0010747 | Medial flaring of the eyebrow |
| HP:0010748 | Ectopic lacrimal punctum |
| HP:0430021 | Abnormal common carotid artery morphology |
| HP:0010749 | Blepharochalasis |
| HP:0100540 | Palpebral edema |
| HP:0100539 | Periorbital edema |
| HP:0000282 | Facial edema |
| HP:0430020 | Abnormality of levator labii superioris alaeque nasi muscle |
| HP:0430019 | Abnormality of muscle of facial expression |
| http://purl.obolibrary.org/obo/CHEBI_136859 | pro-agent |
| http://purl.obolibrary.org/obo/CHEBI_136849 | 3-oxo-Delta(4)-steroid group |
| http://purl.obolibrary.org/obo/GO_1903828 | negative regulation of cellular protein localization |
| http://purl.obolibrary.org/obo/GO_1903829 | positive regulation of cellular protein localization |
| http://purl.obolibrary.org/obo/GO_1903827 | regulation of cellular protein localization |
| http://purl.obolibrary.org/obo/GO_0046005 | positive regulation of circadian sleep/wake cycle, REM sleep |
| http://purl.obolibrary.org/obo/GO_0042320 | regulation of circadian sleep/wake cycle, REM sleep |
| http://purl.obolibrary.org/obo/GO_0045938 | positive regulation of circadian sleep/wake cycle, sleep |
| http://purl.obolibrary.org/obo/GO_0045187 | regulation of circadian sleep/wake cycle, sleep |
| http://purl.obolibrary.org/obo/GO_0042749 | regulation of circadian sleep/wake cycle |
| http://purl.obolibrary.org/obo/GO_0042753 | positive regulation of circadian rhythm |
| http://purl.obolibrary.org/obo/GO_0042752 | regulation of circadian rhythm |
| http://purl.obolibrary.org/obo/NBO_0000163 | REM frequency |
| http://purl.obolibrary.org/obo/NBO_0000162 | REM duration |
| http://purl.obolibrary.org/obo/NBO_0000160 | sleep duration |
| HP:0009709 | Increased CSF interferon alpha |
| http://purl.obolibrary.org/obo/GO_0022011 | myelination in peripheral nervous system |
| http://purl.obolibrary.org/obo/GO_0022010 | central nervous system myelination |
| http://purl.obolibrary.org/obo/GO_0042552 | myelination |
| HP:0009704 | Chronic CSF lymphocytosis |
| HP:0200149 | CSF lymphocytic pleiocytosis |
| HP:0012229 | CSF pleocytosis |
| HP:0009708 | Synostosis involving the 5th metacarpal |
| HP:0009705 | Synostosis involving the 2nd metacarpal |
| HP:0010010 | Abnormality of the 2nd metacarpal |
| HP:0009706 | Synostosis involving the 3rd metacarpal |
| HP:0010011 | Abnormality of the 3rd metacarpal |
| HP:0010708 | 1-5 finger syndactyly |
| HP:0010707 | 1-4 finger syndactyly |
| HP:0009710 | Chilblains |
| HP:0009711 | Retinal capillary hemangioma |
| http://purl.obolibrary.org/obo/GO_0010032 | meiotic chromosome condensation |
| http://purl.obolibrary.org/obo/GO_0070192 | chromosome organization involved in meiotic cell cycle |
| HP:0009715 | Papillary cystadenoma of the epididymis |
| HP:0009713 | Spinal hemangioblastoma |
| HP:0010302 | Spinal cord tumor |
| HP:0009718 | Subependymal giant-cell astrocytoma |
| HP:0009592 | Astrocytoma |
| HP:0100707 | Abnormality of the astrocytes |
| HP:0009716 | Subependymal nodules |
| HP:0009717 | Cortical tubers |
| HP:0009731 | Cerebral hamartoma |
| HP:0010706 | 1-3 finger syndactyly |
| HP:0010704 | 1-2 finger syndactyly |
| http://purl.obolibrary.org/obo/PR_Q12882 | dihydropyrimidine dehydrogenase [NADP(+)] (human) |
| http://purl.obolibrary.org/obo/PR_000006678 | dihydropyrimidine dehydrogenase [NADP(+)] |
| HP:0010672 | Abnormality of the third metatarsal bone |
| HP:0010675 | Abnormal foot bone ossification |
| HP:0010676 | Mechanical ileus |
| HP:0002595 | Ileus |
| HP:0009684 | Stippling of the epiphysis of the distal phalanx of the thumb |
| HP:0010255 | Stippling of the epiphyses of the distal phalanges of the hand |
| HP:0007023 | Antenatal intracerebral hemorrhage |
| HP:0001342 | Cerebral hemorrhage |
| HP:0009685 | Triangular epiphysis of the distal phalanx of the thumb |
| HP:0010256 | Triangular epiphyses of the distal phalanges of the hand |
| HP:0009682 | Pseudoepiphysis of the distal phalanx of the thumb |
| HP:0010253 | Pseudoepiphyses of the distal phalanges of the hand |
| HP:0007021 | Pain insensitivity |
| HP:0009683 | Small epiphysis of the distal phalanx of the thumb |
| HP:0010254 | Small epiphyses of the distal phalanges of the hand |
| HP:0007020 | Progressive spastic paraplegia |
| HP:0001258 | Spastic paraplegia |
| HP:0010550 | Paraplegia |
| HP:0007027 | Poorly formed metencephalon |
| HP:0007024 | Pseudobulbar paralysis |
| HP:0002015 | Dysphagia |
| HP:0025270 | Abnormality of esophagus physiology |
| HP:0001618 | Dysphonia |
| HP:0001260 | Dysarthria |
| HP:0002200 | Pseudobulbar signs |
| HP:0010677 | Enuresis nocturna |
| HP:0010678 | Enuresis diurna |
| HP:0000805 | Enuresis |
| HP:0007029 | Cerebral berry aneurysm |
| HP:0004944 | Dilatation of the cerebral artery |
| HP:0010680 | Elevated alkaline phosphatase of renal origin |
| HP:0010681 | Elevated intestinal alkaline phosphatase |
| HP:0010682 | Elevated placental alkaline phosphatase |
| HP:0010683 | Low tissue non-specific alkaline phosphatase |
| HP:0010684 | Low alkaline phosphatase of bone origin |
| HP:0010685 | Low alkaline phosphatase of renal origin |
| HP:0010686 | Low alkaline phosphatase of hepatic origin |
| HP:0010687 | Low intestinal alkaline phosphatase |
| HP:0007041 | Chronic lymphocytic meningitis |
| HP:0007034 | Generalized hyperreflexia |
| HP:0009697 | Contracture of the distal interphalangeal joint of the fingers |
| HP:0007036 | Hypoplasia of olfactory tract |
| HP:0007035 | Anterior encephalocele |
| HP:0010688 | Low placental alkaline phosphatase |
| http://purl.obolibrary.org/obo/UBERON_0035403 | hypophysial artery |
| HP:0007039 | Symmetric lesions of the basal ganglia |
| http://purl.obolibrary.org/obo/UBERON_0035401 | posterior wall of nasopharynx |
| HP:0010691 | Mirror image foot polydactyly |
| HP:0010692 | 2-5 finger syndactyly |
| HP:0010710 | 3-5 finger syndactyly |
| HP:0010705 | 4-5 finger syndactyly |
| HP:0010709 | 2-4 finger syndactyly |
| HP:0006097 | 3-4 finger syndactyly |
| HP:0001233 | 2-3 finger syndactyly |
| HP:0010694 | Lamellar pulverulent cataract |
| HP:0010695 | Sutural cataract |
| HP:0010697 | Anterior pyramidal cataract |
| HP:0001134 | Anterior polar cataract |
| HP:0010696 | Polar cataract |
| HP:0010698 | Nuclear pulverulent cataract |
| HP:0010690 | Mirror image hand polydactyly |
| HP:0010689 | Mirror image polydactyly |
| HP:0007045 | Midline brain calcifications |
| HP:0007048 | Large basal ganglia |
| HP:0007047 | Atrophy of the dentate nucleus |
| HP:0100321 | Abnormality of the dentate nucleus |
| HP:0010699 | Triangular nuclear cataract |
| HP:0007063 | Aplasia of the inferior half of the cerebellar vermis |
| HP:0007054 | Hyperreflexia proximally |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia |
| HP:0007057 | Poor hand-eye coordination |
| HP:0002370 | Poor coordination |
| HP:0002311 | Incoordination |
| HP:0032001 | Pink urine |
| HP:0032000 | Pleural rub |
| HP:0032005 | Hemidystonia |
| HP:0032004 | Pruritus vulvae |
| HP:0010630 | Abnormality of metatarsal epiphysis |
| HP:0032003 | Green urine |
| HP:0010631 | Abnormality of the epiphyses of the feet |
| HP:0032002 | Orange urine |
| HP:0010632 | Total anosmia |
| HP:0009640 | Synostosis of the proximal phalanx of the thumb with the 1st metacarpal |
| HP:0009703 | Synostosis involving the 1st metacarpal |
| HP:0010009 | Abnormality of the 1st metacarpal |
| HP:0006152 | Proximal symphalangism of hands |
| HP:0100264 | Proximal symphalangism |
| HP:0009644 | Curved distal phalanx of the thumb |
| HP:0009645 | Osteolytic defect of the distal phalanx of the thumb |
| HP:0009642 | Broad distal phalanx of the thumb |
| HP:0011304 | Broad thumb |
| HP:0009643 | Bullet-shaped distal phalanx of the thumb |
| HP:0009648 | Triangular shaped distal phalanx of the thumb |
| HP:0010633 | Partial anosmia |
| HP:0000458 | Anosmia |
| HP:0032009 | Infantile constant exotropia |
| HP:0009649 | Aplasia of the distal phalanx of the thumb |
| HP:0010634 | Total hyposmia |
| HP:0032008 | Pulmonary fat embolism |
| HP:0002204 | Pulmonary embolism |
| HP:0009646 | Patchy sclerosis of the distal phalanx of the thumb |
| HP:0100912 | Sclerosis of the distal phalanx of the thumb |
| HP:0010635 | Partial hyposmia |
| HP:0004409 | Hyposmia |
| HP:0004408 | Abnormality of the sense of smell |
| HP:0032007 | Maceration |
| HP:0032006 | Lip tremor |
| HP:0002346 | Head tremor |
| HP:0010636 | Schizencephaly |
| HP:0010637 | Conjunctival amyloidosis |
| HP:0010638 | Elevated alkaline phosphatase of hepatic origin |
| http://purl.obolibrary.org/obo/GO_0097529 | myeloid leukocyte migration |
| HP:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0010679 | Elevated tissue non-specific alkaline phosphatase |
| http://purl.obolibrary.org/obo/PR_O89103 | complement component C1q receptor (mouse) |
| HP:0010643 | Midnasal atresia |
| HP:0009652 | Bullet-shaped thumb phalanx |
| HP:0009650 | Short distal phalanx of the thumb |
| HP:0009641 | Aplasia/Hypoplasia of the distal phalanx of the thumb |
| HP:0009655 | Patchy sclerosis of thumb phalanx |
| HP:0009656 | Symphalangism of the thumb |
| HP:0001204 | Distal symphalangism of hands |
| HP:0100263 | Distal symphalangism |
| HP:0009635 | Synostosis of thumb phalanx |
| HP:0009653 | Curved thumb phalanx |
| HP:0004095 | Curved fingers |
| HP:0009654 | Osteolytic defect of thumb phalanx |
| HP:0009659 | Partial absence of thumb |
| HP:0010644 | Midnasal stenosis |
| HP:0010641 | Abnormality of the midnasal cavity |
| HP:0010640 | Abnormality of the nasal cavity |
| http://purl.obolibrary.org/obo/CHEBI_58402 | 5-oxo-L-prolinate |
| http://purl.obolibrary.org/obo/CHEBI_59814 | L-alpha-amino acid anion |
| HP:0010645 | Aplasia of the distal phalanges of the toes |
| HP:0010745 | Aplasia of the phalanges of the toes |
| HP:0009657 | Triangular shaped thumb phalanx |
| HP:0010646 | Cervical spine instability |
| HP:0010648 | Dermal translucency |
| HP:0010649 | Flat nasal alae |
| http://purl.obolibrary.org/obo/UBERON_0035431 | mediastinal pleura |
| HP:0010650 | Hypoplasia of the premaxilla |
| HP:0010654 | Aplasia of the falx cerebri |
| HP:0020006 | Ciliary body coloboma |
| HP:0000589 | Coloboma |
| HP:0009670 | Ivory epiphysis of the proximal phalanx of the thumb |
| HP:0010274 | Ivory epiphyses of the proximal phalanges of the hand |
| HP:0010263 | Ivory epiphyses of the middle phalanges of the hand |
| http://purl.obolibrary.org/obo/CHEBI_546807 | beta-D-Galp-(1->3)-D-GalpNAc |
| HP:0007001 | Loss of Purkinje cells in the cerebellar vermis |
| HP:0007000 | Morning myoclonic jerks |
| HP:0009660 | Short phalanx of the thumb |
| HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb |
| http://purl.obolibrary.org/obo/CHEBI_58419 | 4-hydroxy-L-proline zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_63137 | 4-hydroxyproline zwitterion |
| HP:0009666 | Cone-shaped epiphysis of the proximal phalanx of the thumb |
| HP:0010259 | Cone-shaped epiphyses of the middle phalanges of the hand |
| HP:0010270 | Cone-shaped epiphyses of the proximal phalanges of the hand |
| HP:0009667 | Enlarged epiphysis of the proximal phalanx of the thumb |
| HP:0010271 | Enlarged epiphyses of the proximal phalanges of the hand |
| HP:0010260 | Enlarged epiphyses of the middle phalanges of the hand |
| HP:0009664 | Absent epiphysis of the proximal phalanx of the thumb |
| HP:0010268 | Absent epiphyses of the proximal phalanges of the hand |
| HP:0010257 | Absent epiphyses of the middle phalanges of the hand |
| HP:0007002 | Motor axonal neuropathy |
| HP:0009665 | Bracket epiphysis of the proximal phalanx of the thumb |
| HP:0010269 | Bracket epiphyses of the proximal phalanges of the hand |
| HP:0010258 | Bracket epiphyses of the middle phalanges of the hand |
| HP:0007009 | Central nervous system degeneration |
| HP:0007007 | Cavitation of the basal ganglia |
| HP:0010657 | Patchy reduction of bone mineral density |
| HP:0009668 | Fragmentation of the epiphysis of the proximal phalanx of the thumb |
| HP:0010261 | Fragmentation of the epiphyses of the middle phalanges of the hand |
| HP:0009669 | Irregular epiphysis of the proximal phalanx of the thumb |
| HP:0010273 | Irregular epiphyses of the proximal phalanges of the hand |
| HP:0010262 | Irregular epiphyses of the middle phalanges of the hand |
| HP:0007006 | Dorsal column degeneration |
| HP:0011397 | Abnormality of the dorsal column of the spinal cord |
| HP:0010659 | Patchy variation in bone mineral density |
| http://purl.obolibrary.org/obo/UBERON_0035435 | right suprarenal vein |
| http://purl.obolibrary.org/obo/GO_1903770 | negative regulation of beta-galactosidase activity |
| HP:0010661 | Absence of the third cerebral ventricle |
| http://purl.obolibrary.org/obo/CHEBI_22478 | amino alcohol |
| http://purl.obolibrary.org/obo/GO_1903771 | positive regulation of beta-galactosidase activity |
| HP:0010664 | Fusion of the left and right thalami |
| HP:0010663 | Abnormality of thalamus morphology |
| HP:0010665 | Bilateral coxa valga |
| HP:0002673 | Coxa valga |
| HP:0009680 | Irregular epiphysis of the distal phalanx of the thumb |
| HP:0010251 | Irregular epiphyses of the distal phalanges of the hand |
| HP:0009691 | Irregular thumb epiphysis |
| HP:0010233 | Irregular epiphyses of the phalanges of the hand |
| HP:0003842 | Irregular epiphyses of the upper limbs |
| HP:0009681 | Ivory epiphysis of the distal phalanx of the thumb |
| HP:0010252 | Ivory epiphyses of the distal phalanges of the hand |
| HP:0009692 | Ivory epiphysis of the thumb |
| HP:0010234 | Ivory epiphyses of the phalanges of the hand |
| HP:0010583 | Ivory epiphyses |
| HP:0100922 | Sclerosis of thumb phalanx |
| HP:0009673 | Stippling of the epiphysis of the proximal phalanx of the thumb |
| HP:0010266 | Stippling of the epiphyses of the middle phalanges of the hand |
| HP:0010277 | Stippling of the epiphyses of the proximal phalanges of the hand |
| HP:0009695 | Stippling of thumb epiphysis |
| HP:0010237 | Epiphyseal stippling of finger phalanges |
| HP:0010660 | Abnormal hand bone ossification |
| HP:0009674 | Triangular epiphysis of the proximal phalanx of the thumb |
| HP:0010267 | Triangular epiphyses of the middle phalanges of the hand |
| HP:0009696 | Triangular epiphyses of the thumb |
| HP:0010278 | Triangular epiphyses of the proximal phalanges of the hand |
| HP:0010238 | Triangular epiphyses of the phalanges of the hand |
| HP:0010587 | Triangular epiphyses |
| HP:0007011 | Fourth cranial nerve palsy |
| HP:0009671 | Pseudoepiphysis of the proximal phalanx of the thumb |
| HP:0010275 | Pseudoepiphyses of the proximal phalanges of the hand |
| HP:0010264 | Pseudoepiphyses of the middle phalanges of the hand |
| HP:0009693 | Pseudoepiphysis of the thumb |
| HP:0010235 | Pseudoepiphyses of the phalanges of the hand |
| HP:0004288 | Pseudoepiphyses of hand bones |
| HP:0010584 | Pseudoepiphyses |
| HP:0007010 | Poor fine motor coordination |
| HP:0009672 | Small epiphysis of the proximal phalanx of the thumb |
| HP:0010265 | Small epiphyses of the middle phalanges of the hand |
| HP:0010276 | Small epiphyses of the proximal phalanges of the hand |
| HP:0009663 | Abnormality of the epiphysis of the proximal phalanx of the thumb |
| HP:0010244 | Abnormality of the epiphyses of the middle phalanges of the hand |
| HP:0010245 | Abnormality of the epiphyses of the proximal phalanges of the hand |
| HP:0009618 | Abnormality of the proximal phalanx of the thumb |
| HP:0009694 | Small thumb epiphysis |
| HP:0010236 | Small epiphyses of the phalanges of the hand |
| HP:0003844 | Small epiphyses of the upper limbs |
| HP:0009677 | Cone-shaped epiphysis of the distal phalanx of the thumb |
| HP:0010248 | Cone-shaped epiphyses of the distal phalanges of the hand |
| HP:0009688 | Cone-shaped epiphysis of the thumb |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand |
| HP:0007016 | Corticospinal tract hypoplasia |
| HP:0009678 | Enlarged epiphysis of the distal phalanx of the thumb |
| HP:0009689 | Enlarged thumb epiphysis |
| HP:0010249 | Enlarged epiphyses of the distal phalanges of the hand |
| HP:0010231 | Enlarged epiphyses of the phalanges of the hand |
| HP:0007015 | Poor gross motor coordination |
| HP:0002275 | Poor motor coordination |
| HP:0009675 | Absent epiphysis of the distal phalanx of the thumb |
| HP:0010246 | Absent epiphyses of the distal phalanges of the hand |
| HP:0009676 | Bracket epiphysis of the distal phalanx of the thumb |
| HP:0010247 | Bracket epiphyses of the distal phalanges of the hand |
| HP:0009687 | Bracket epiphyses of the thumb |
| HP:0010229 | Bracket epiphyses of the phalanges of the hand |
| HP:0010578 | Bracket epiphyses |
| HP:0010666 | Hypoplasia of the anterior nasal spine |
| HP:0010667 | Aplasia of the maxilla |
| HP:0009679 | Fragmentation of the epiphysis of the distal phalanx of the thumb |
| HP:0010250 | Fragmentation of the epiphyses of the distal phalanges of the hand |
| HP:0009662 | Abnormality of the epiphysis of the distal phalanx of the thumb |
| HP:0010243 | Abnormality of the epiphyses of the distal phalanx of finger |
| HP:0009690 | Fragmentation of thumb epiphysis |
| HP:0010232 | Fragmentation of the epiphyses of the phalanges of the hand |
| HP:0003841 | Fragmented epiphyses of the upper limbs |
| HP:0004277 | Fractured hand bones |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0000752 | Hyperactivity |
| HP:0000736 | Short attention span |
| HP:0007017 | Progressive forgetfulness |
| HP:0002354 | Memory impairment |
| HP:0032045 | Hypoplastic carotid canal |
| HP:0032044 | Decreased vigilance |
| HP:0032043 | Odynophagia |
| HP:0032048 | Focal cortical dysplasia type Ia |
| HP:0032041 | Vocal cord polyp |
| HP:0008777 | Abnormal vocal cord morphology |
| HP:0020063 | Increased hemoglobin concentration |
| HP:0020062 | Decreased hemoglobin concentration |
| HP:0020061 | Abnormal hemoglobin concentration |
| HP:0020060 | Decreased red blood cell count |
| HP:0032034 | Upper eyelid laxity |
| HP:0032033 | Vertical eyelid laxity |
| HP:0032032 | Horizontal eyelid laxity |
| HP:0032031 | Medial canthal tendon laxity |
| HP:0032037 | Mildly reduced visual acuity |
| HP:0032035 | Lower eyelid laxity |
| HP:0032030 | Lateral canthal tendon laxity |
| HP:0020059 | Increased red blood cell count |
| HP:0020058 | Abnormal red blood cell count |
| HP:0020050 | Anti-granulocyte-macrophage colony stimulating factor antibody positivity |
| HP:0032023 | Eosinophilic gallbladder infiltration |
| HP:0032022 | Eosinophilic dermal infiltration |
| HP:0032021 | Eosinophilic liver infiltration |
| HP:0032020 | Eosinophilic bladder infiltration |
| HP:0032027 | Retinal dots |
| HP:0032026 | Anetoderma |
| HP:0032025 | Reduced serum alpha-1-antitrypsin |
| HP:0032024 | Ileal ulcer |
| HP:0020043 | Vertical incomitant strabismus |
| HP:0020044 | Horizontal incomitant strabismus |
| HP:0020041 | Double elevator palsy |
| HP:0020042 | Double depressor palsy |
| HP:0020048 | Reduced bone-marrow pro-B cell count |
| HP:0020046 | Accommodative esotropia |
| HP:0000565 | Esotropia |
| HP:0020045 | Esodeviation |
| HP:0032029 | Floppy eyelid |
| HP:0031880 | Eyelid laxity |
| HP:0032028 | Macular dots |
| HP:0032011 | Heterophoria |
| HP:0032010 | Basic constant exotropia |
| HP:0031713 | Constant exotropia |
| HP:0000577 | Exotropia |
| HP:0020049 | Exodeviation |
| HP:0032012 | Heterotropia |
| HP:0032015 | Dysmetric horizontal saccades |
| HP:0032014 | Dysmetric vertical saccades |
| HP:0000641 | Dysmetric saccades |
| HP:0032013 | Hypermetric horizontal saccades |
| HP:0020038 | Vertebrobasilar dolichoectasia |
| HP:0020036 | Upper limb dysmetria |
| HP:0020037 | Astasia |
| HP:0020034 | Diffuse |
| HP:0020035 | Lower limb dysmetria |
| HP:0002406 | Limb dysmetria |
| HP:0002070 | Limb ataxia |
| HP:0001310 | Dysmetria |
| HP:0032019 | Muscle eosinophilia |
| HP:0032018 | Multiple mononeuropathy |
| HP:0032017 | Sputum eosinophilia |
| HP:0032089 | Aortic medial fibrosis |
| HP:0032088 | Aortic smooth muscle cell disorganization |
| HP:0032087 | Aortic laminar medial collapse |
| HP:0032086 | Aortic smooth muscle cell nuclei loss |
| HP:0032081 | Intralamellar mucoid extracellular matrix accumulation |
| HP:0007074 | Thick corpus callosum |
| HP:0032085 | Aortic elastic fiber disorganization |
| HP:0032084 | Aortic elastic fiber thinning |
| HP:0032083 | Aortic elastic fiber fragmentation |
| HP:0032082 | Translamellar mucoid extracellular matrix accumulation |
| HP:0200146 | Mucoid extracellular matrix accumulation |
| HP:0012180 | Cystic medial necrosis |
| HP:0007067 | Distal peripheral sensory neuropathy |
| HP:0007066 | Proximal limb muscle stiffness |
| HP:0007065 | Disorganization of the anterior cerebellar vermis |
| HP:0007064 | Progressive language deterioration |
| HP:0007069 | Profound static encephalopathy |
| HP:0007030 | Nonprogressive encephalopathy |
| HP:0007068 | Inferior vermis hypoplasia |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
| HP:0002334 | Abnormality of the cerebellar vermis |
| HP:0032078 | Angel-shaped phalanx |
| HP:0032077 | Male urethral meatus stenosis |
| HP:0032075 | Splenopancreatic fusion |
| HP:0032079 | Medial degeneration |
| HP:0007081 | Late-onset muscular dystrophy |
| HP:0003560 | Muscular dystrophy |
| HP:0032070 | Leptomeningeal enhancement |
| HP:0032073 | Aplasia of the fallopian tube |
| HP:0008655 | Aplasia/Hypoplasia of the fallopian tube |
| HP:0011027 | Abnormal fallopian tube morphology |
| HP:0007083 | Hyperactive patellar reflex |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0032072 | Popliteal synovial cyst |
| HP:0007082 | Dilated third ventricle |
| HP:0032071 | Pulmonary eosinophilic infiltration |
| HP:0020098 | Herpes encephalitis |
| HP:0020099 | Severe norovirus infection |
| HP:0020097 | Infection due to encapsulated bacteria |
| HP:0020090 | Post-vaccination polio |
| HP:0020091 | Post-vaccination rotavirus infection |
| HP:0020095 | Prolonged need of intravenous antibiotic therapy |
| HP:0020093 | Recurrent deep organ abscess formation |
| HP:0032067 | Elevated serum bicarbonate concentration |
| HP:0032066 | Decreased serum bicarbonate concentration |
| HP:0032065 | Abnormal serum bicarbonate concentration |
| HP:0032069 | Anti-thyroglobulin antibody positivity |
| HP:0032068 | Increased urinary mucus |
| HP:0007096 | Hypoplasia of the optic tract |
| HP:0032063 | Ankle joint effusion |
| HP:0007095 | Frontoparietal polymicrogyria |
| HP:0032062 | Mallory-Weiss tear |
| HP:0032061 | Hypereosinophilia |
| HP:0032060 | Epithelioid hemangioma |
| HP:0020087 | BCGosis |
| HP:0020088 | Post-vaccination measles |
| HP:0007086 | Social and occupational deterioration |
| HP:0020086 | BCGitis |
| HP:0020089 | Post-vaccination rubella |
| HP:0020085 | Infection following live vaccination |
| HP:0020083 | Furuncle |
| HP:0020084 | Carbuncle |
| HP:0025084 | Folliculitis |
| http://purl.obolibrary.org/obo/CHEBI_5520 | gonadorelin |
| HP:0020081 | Pappenheimer bodies |
| HP:0020082 | Heinz bodies |
| HP:0032056 | Focal cortical dysplasia type IIIb |
| HP:0032055 | Focal cortical dysplasia type IIIa |
| HP:0032053 | Focal cortical dysplasia type IIb |
| HP:0032059 | Mild malformation of cortical development |
| HP:0032058 | Focal cortical dysplasia type IIId |
| HP:0032057 | Focal cortical dysplasia type IIIc |
| HP:0032054 | Focal cortical dysplasia type III |
| HP:0032052 | Focal cortical dysplasia type IIa |
| HP:0032051 | Focal cortical dysplasia type II |
| HP:0032050 | Focal cortical dysplasia type Ic |
| HP:0032049 | Focal cortical dysplasia type Ib |
| HP:0032047 | Focal cortical dysplasia type I |
| HP:0032046 | Focal cortical dysplasia |
| HP:0002539 | Cortical dysplasia |
| HP:0020076 | Wrist ganglion |
| HP:0020077 | Carnitinuria |
| HP:0007099 | Arnold-Chiari type I malformation |
| HP:0002308 | Arnold-Chiari malformation |
| HP:0007098 | Paroxysmal choreoathetosis |
| HP:0020075 | Leucine crystalluria |
| HP:0007097 | Cranial nerve motor loss |
| HP:0020078 | Alaninuria |
| HP:0020079 | Beta-alaninuria |
| HP:0020072 | Persistent EBV viremia |
| http://purl.obolibrary.org/obo/GO_0048520 | positive regulation of behavior |
| http://purl.obolibrary.org/obo/GO_0048515 | spermatid differentiation |
| http://www.informatics.jax.org/marker/MGI:87991 | Alb (mouse) |
| http://www.informatics.jax.org/marker/MGI:87983 | Alpl (mouse) |
| http://purl.obolibrary.org/obo/NBO_0000034 | sexual activity |
| http://purl.obolibrary.org/obo/NBO_0000010 | reproductive behavior |
| http://purl.obolibrary.org/obo/NBO_0000032 | paralysis |
| http://purl.obolibrary.org/obo/NBO_0000030 | hyperactivity |
| http://purl.obolibrary.org/obo/NBO_0000024 | sleeping behavior |
| http://purl.obolibrary.org/obo/GO_0030431 | sleep |
| http://purl.obolibrary.org/obo/NBO_0000008 | rhythmic behavior |
| http://purl.obolibrary.org/obo/CHEBI_71300 | EC 2.* (transferase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_134394 | primary allylic alcohol |
| http://purl.obolibrary.org/obo/CHEBI_15734 | primary alcohol |
| http://purl.obolibrary.org/obo/CHEBI_48999 | 4-hydroxyphenylacetate |
| http://purl.obolibrary.org/obo/GO_1901343 | negative regulation of vasculature development |
| http://purl.obolibrary.org/obo/UBERON_0035371 | retroperitoneal lymph node |
| http://purl.obolibrary.org/obo/GO_1901342 | regulation of vasculature development |
| HP:0010830 | Impaired tactile sensation |
| HP:0010839 | Increased urinary copper concentration |
| HP:0045036 | Abnormal urinary copper concentration |
| HP:0025640 | Abnormal urinary mineral level |
| http://purl.obolibrary.org/obo/CHEBI_134361 | allylic alcohol |
| http://purl.obolibrary.org/obo/CHEBI_78840 | olefinic compound |
| HP:0009840 | Patchy sclerosis of distal phalanx of finger |
| HP:0100915 | Sclerosis of distal finger phalanx |
| HP:0009846 | Curved middle phalanges of the hand |
| HP:0009847 | Osteolytic defects of the middle phalanges of the hand |
| http://purl.obolibrary.org/obo/CHEBI_58314 | (2R)-2-hydroxy monocarboxylic acid anion |
| HP:0009844 | Broad middle phalanx of finger |
| HP:0010833 | Spontaneous pain sensation |
| http://purl.obolibrary.org/obo/NBO_0000096 | agoraphobia behavior |
| HP:0009845 | Bullet-shaped middle phalanges of the hand |
| HP:0010835 | Dissociated sensory loss |
| http://purl.obolibrary.org/obo/NBO_0000094 | fear behavior towards situation/environment |
| http://purl.obolibrary.org/obo/NBO_0000100 | exploration behavior |
| http://purl.obolibrary.org/obo/NBO_0000097 | response to novel environment |
| HP:0009848 | Patchy sclerosis of middle phalanx of finger |
| HP:0100916 | Sclerosis of middle finger phalanx |
| HP:0010837 | Decreased serum ceruloplasmin |
| http://purl.obolibrary.org/obo/NBO_0000092 | anxiety-related behavior |
| HP:0009849 | Symphalangism of middle phalanx of finger |
| HP:0010838 | High nonceruloplasmin-bound serum copper |
| http://purl.obolibrary.org/obo/NBO_0000091 | fear-related behavior |
| http://purl.obolibrary.org/obo/NBO_0000018 | fear/anxiety related behavior |
| http://purl.obolibrary.org/obo/GO_0012505 | endomembrane system |
| http://purl.obolibrary.org/obo/GO_0048598 | embryonic morphogenesis |
| HP:0010841 | Multifocal epileptiform discharges |
| http://purl.obolibrary.org/obo/GO_1903999 | negative regulation of eating behavior |
| http://purl.obolibrary.org/obo/GO_1903998 | regulation of eating behavior |
| http://purl.obolibrary.org/obo/GO_2000252 | negative regulation of feeding behavior |
| http://purl.obolibrary.org/obo/GO_0048521 | negative regulation of behavior |
| http://purl.obolibrary.org/obo/GO_0060259 | regulation of feeding behavior |
| http://purl.obolibrary.org/obo/GO_0050795 | regulation of behavior |
| http://purl.obolibrary.org/obo/CHEBI_507393 | taurine zwitterion |
| http://purl.obolibrary.org/obo/GO_0012506 | vesicle membrane |
| HP:0009853 | Bullet-shaped proximal phalanges of the hand |
| HP:0009854 | Curved proximal phalanges of the hand |
| HP:0009851 | Aplasia/Hypoplasia of the proximal phalanges of the hand |
| HP:0009852 | Broad proximal phalanges of the hand |
| HP:0009857 | Symphalangism affecting the proximal phalanges of the hand |
| HP:0009858 | Triangular shaped proximal phalanges of the hand |
| HP:0010843 | EEG with focal slow activity |
| http://purl.obolibrary.org/obo/NBO_0000086 | novelty response behavior |
| HP:0009855 | Osteolytic defects of the proximal phalanges of the hand |
| HP:0010844 | EEG with multifocal slow activity |
| http://purl.obolibrary.org/obo/NBO_0000085 | depression behavior |
| HP:0009856 | Patchy sclerosis of proximal phalanx of finger |
| HP:0100917 | Sclerosis of proximal finger phalanx |
| HP:0010845 | EEG with generalized slow activity |
| HP:0011203 | EEG with abnormally slow frequencies |
| HP:0010846 | EEG with persistent abnormal rhythmic activity |
| HP:0011176 | EEG with constitutional variants |
| HP:0010847 | EEG with spike-wave complexes (<2.5 Hz) |
| HP:0010848 | EEG with spike-wave complexes (2.5-3.5 Hz) |
| HP:0010849 | EEG with spike-wave complexes (>3.5 Hz) |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0010851 | EEG with burst suppression |
| HP:0010852 | EEG with photoparoxysmal response |
| HP:0007201 | Cerebral artery atherosclerosis |
| HP:0007200 | Episodic hypersomnia |
| HP:0100786 | Hypersomnia |
| HP:0007207 | Photosensitive tonic-clonic seizure |
| HP:0010853 | EEG with periodic lateralized epileptiform discharges |
| HP:0011186 | Focal epileptiform discharges with limited propagation to contralateral hemisphere |
| HP:0011185 | EEG with focal epileptiform discharges |
| HP:0007206 | Hemimegalencephaly |
| HP:0001355 | Megalencephaly |
| HP:0010854 | EEG with generalized low amplitude activity |
| HP:0010855 | EEG with localized low amplitude activity |
| HP:0011201 | EEG with changes in voltage |
| HP:0010856 | EEG with periodic complexes |
| HP:0010857 | EEG with periodic abnormalities |
| HP:0011200 | EEG with generalized polymorphic epileptiform discharges |
| HP:0011198 | EEG with generalized epileptiform discharges |
| HP:0010858 | EEG with hyperventilation-induced epileptiform discharges |
| HP:0011182 | Interictal epileptiform activity |
| HP:0025373 | Interictal EEG abnormality |
| HP:0002353 | EEG abnormality |
| HP:0010859 | Frank breech presentation |
| HP:0007209 | Facial paralysis |
| HP:0007208 | Irregular myelin loops |
| HP:0010860 | Complete breech presentation |
| HP:0010861 | Incomplete breech presentation |
| HP:0001623 | Breech presentation |
| HP:0010862 | Delayed fine motor development |
| HP:0010863 | Receptive language delay |
| HP:0000750 | Delayed speech and language development |
| http://purl.obolibrary.org/obo/GO_1901318 | negative regulation of flagellated sperm motility |
| http://purl.obolibrary.org/obo/GO_2000242 | negative regulation of reproductive process |
| http://purl.obolibrary.org/obo/GO_1902020 | negative regulation of cilium-dependent cell motility |
| http://purl.obolibrary.org/obo/GO_1901317 | regulation of flagellated sperm motility |
| http://purl.obolibrary.org/obo/GO_1902019 | regulation of cilium-dependent cell motility |
| http://purl.obolibrary.org/obo/GO_2000241 | regulation of reproductive process |
| HP:0007210 | Lower limb amyotrophy |
| HP:0009875 | Triangular shaped distal phalanges of the hand |
| HP:0009879 | Simplified gyral pattern |
| HP:0010864 | Intellectual disability, severe |
| HP:0001249 | Intellectual disability |
| HP:0010865 | Oppositional defiant disorder |
| HP:0010866 | Abdominal wall defect |
| HP:0009878 | Cerebellar ataxia associated with quadrupedal gait |
| HP:0007215 | Periodic hyperkalemic paralysis |
| HP:0003768 | Periodic paralysis |
| HP:0010868 | Ocular dyssynergia |
| HP:0010869 | Asynergia |
| HP:0010867 | Dyssynergia |
| http://purl.obolibrary.org/obo/UBERON_0011380 | female external urethral sphincter |
| http://purl.obolibrary.org/obo/GO_0061512 | protein localization to cilium |
| http://purl.obolibrary.org/obo/GO_0033365 | protein localization to organelle |
| http://purl.obolibrary.org/obo/NBO_0000054 | suckling behavior |
| HP:0009800 | Maternal diabetes |
| http://purl.obolibrary.org/obo/UBERON_0011386 | facial modiolus |
| HP:0009806 | Nephrogenic diabetes insipidus |
| HP:0000873 | Diabetes insipidus |
| HP:0009804 | Reduced number of teeth |
| HP:0006483 | Abnormal number of teeth |
| HP:0009805 | Low-output congestive heart failure |
| HP:0001635 | Congestive heart failure |
| http://purl.obolibrary.org/obo/UBERON_0011391 | perineal nerve |
| http://purl.obolibrary.org/obo/UBERON_0011390 | pudendal nerve |
| HP:0009819 | Lower limb phocomelia |
| HP:0010806 | U-Shaped upper lip vermilion |
| HP:0010807 | Open bite |
| HP:0010808 | Protruding tongue |
| HP:0010809 | Broad uvula |
| HP:0009813 | Upper limb phocomelia |
| http://purl.obolibrary.org/obo/NBO_0000043 | bonding behavior |
| HP:0009814 | Upper limb peromelia |
| HP:0010800 | Absent cupid's bow |
| HP:0009812 | Amelia involving the upper limbs |
| HP:0010801 | Underdeveloped nasolabial fold |
| HP:0009817 | Aplasia involving bones of the lower limbs |
| HP:0010802 | Perioral hyperpigmentation |
| HP:0009818 | Amelia involving the lower limbs |
| HP:0010803 | Everted upper lip vermilion |
| HP:0012472 | Eclabion |
| HP:0010804 | Tented upper lip vermilion |
| HP:0011339 | Abnormality of upper lip vermillion |
| HP:0010805 | Upturned corners of mouth |
| http://purl.obolibrary.org/obo/GO_1903941 | negative regulation of respiratory gaseous exchange |
| http://purl.obolibrary.org/obo/GO_1903942 | positive regulation of respiratory gaseous exchange |
| HP:0010817 | Linear nevus sebaceous |
| HP:0010818 | Generalized tonic seizure |
| HP:0009820 | Lower limb peromelia |
| http://purl.obolibrary.org/obo/NBO_0000079 | feeding behavior |
| http://purl.obolibrary.org/obo/NBO_0001845 | consumption behavior |
| HP:0010810 | Long uvula |
| http://purl.obolibrary.org/obo/NBO_0000075 | playing behavior |
| HP:0009822 | Aplasia involving forearm bones |
| HP:0003953 | Absent forearm bone |
| HP:0010811 | Narrow uvula |
| HP:0010812 | Short uvula |
| HP:0010293 | Aplasia/Hypoplasia of the uvula |
| HP:0000172 | Abnormality of the uvula |
| HP:0100736 | Abnormal soft palate morphology |
| HP:0009828 | Peromelia |
| HP:0010813 | Abnormal number of hair whorls |
| HP:0010814 | Abnormal position of hair whorl |
| HP:0010721 | Abnormal hair whorl |
| HP:0010815 | Nevus sebaceous |
| http://purl.obolibrary.org/obo/CHEBI_58375 | trans-4-hydroxy-L-proline zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_59869 | L-alpha-amino acid zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_78608 | alpha-amino acid zwitterion |
| http://purl.obolibrary.org/obo/UBERON_0035383 | lateral wall of nasopharynx |
| HP:0010828 | Hemifacial spasm |
| HP:0003739 | Myoclonic spasms |
| HP:0010829 | Impaired temperature sensation |
| HP:0009831 | Mononeuropathy |
| http://purl.obolibrary.org/obo/NBO_0000064 | regulation of drinking behavior |
| HP:0010822 | Scintillating scotoma |
| http://purl.obolibrary.org/obo/NBO_0000063 | regulation of eating behavior |
| http://purl.obolibrary.org/obo/CHEBI_58389 | trimethylammonium |
| HP:0010823 | Ridged cranial sutures |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand |
| HP:0010824 | Abnormal fifth cranial nerve morphology |
| HP:0010825 | Abnormality of the eleventh cranial nerve |
| HP:0009837 | Bullet-shaped distal phalanges of the hand |
| HP:0010826 | Abnormality of the twelfth cranial nerve |
| HP:3000075 | Abnormal lingual nerve morphology |
| HP:0009838 | Curved distal phalanges of the hand |
| HP:0010790 | Hyoplasia of the Leydig cells |
| HP:0010468 | Aplasia/Hypoplasia of the testes |
| HP:0010791 | Hyperplasia of the Leydig cells |
| HP:0000053 | Macroorchidism |
| HP:0045058 | Abnormality of the testis size |
| HP:0010793 | Bifid nail |
| HP:0010794 | Impaired visuospatial constructive cognition |
| HP:0001328 | Specific learning disability |
| HP:0010795 | Cerebellar glioma |
| HP:0010796 | Brainstem glioma |
| HP:0009733 | Glioma |
| HP:0100705 | Abnormality of the glial cells |
| HP:0010797 | Hemangioblastoma |
| HP:0100835 | Benign neoplasm of the central nervous system |
| HP:0020106 | Severe giardiasis |
| HP:0020107 | Unusual helminthic infection |
| HP:0020105 | Severe toxoplasmosis |
| HP:0020104 | Unusual protozoan infection |
| http://purl.obolibrary.org/obo/CHEBI_24963 | ketoaldonic acid |
| http://purl.obolibrary.org/obo/CHEBI_24961 | ketoaldonate |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0020102 | Pneumocystis jirovecii pneumonia |
| http://purl.obolibrary.org/obo/GO_0097447 | dendritic tree |
| HP:0020103 | Invasive pulmonary aspergillosis |
| HP:0007146 | Bilateral basal ganglia lesions |
| HP:0020101 | Invasive fungal infection |
| HP:0010798 | Lip freckle |
| http://purl.obolibrary.org/obo/UBERON_0011344 | lateral surface of mandible |
| http://purl.obolibrary.org/obo/UBERON_0011342 | surface of mandible |
| http://purl.obolibrary.org/obo/UBERON_0011349 | pterygomandibular raphe |
| http://purl.obolibrary.org/obo/CHEBI_48927 | N-acyl-L-alpha-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_21644 | N-acyl-L-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_51569 | N-acyl-amino acid |
| HP:0007162 | Diffuse demyelination of the cerebral white matter |
| HP:0007153 | Progressive extrapyramidal movement disorder |
| HP:0007159 | Fluctuations in consciousness |
| HP:0007158 | Progressive extrapyramidal muscular rigidity |
| HP:0007076 | Extrapyramidal muscular rigidity |
| HP:0002063 | Rigidity |
| HP:0007156 | Asymmetric limb muscle stiffness |
| HP:0003552 | Muscle stiffness |
| http://purl.obolibrary.org/obo/CHEBI_48937 | phytane |
| http://purl.obolibrary.org/obo/CHEBI_35190 | diterpene |
| http://purl.obolibrary.org/obo/CHEBI_35186 | terpene |
| http://purl.obolibrary.org/obo/UBERON_0011363 | cranial lymph vasculature |
| http://purl.obolibrary.org/obo/UBERON_0004536 | lymph vasculature |
| http://purl.obolibrary.org/obo/UBERON_0011362 | cranial blood vasculature |
| http://purl.obolibrary.org/obo/CHEBI_22323 | alkyl group |
| http://purl.obolibrary.org/obo/CHEBI_33248 | hydrocarbyl group |
| HP:0007166 | Paroxysmal dyskinesia |
| HP:0007164 | Slowed slurred speech |
| HP:0001350 | Slurred speech |
| http://purl.obolibrary.org/obo/CHEBI_36961 | chalcocarbonic acid |
| http://purl.obolibrary.org/obo/UBERON_0011366 | cleidobrachialis muscle |
| http://purl.obolibrary.org/obo/UBERON_0011364 | cleidocephalicus muscle |
| http://purl.obolibrary.org/obo/UBERON_0011368 | brachiocephalic muscle |
| http://purl.obolibrary.org/obo/UBERON_0011370 | transverse process of atlas |
| http://purl.obolibrary.org/obo/CHEBI_48944 | isobutyrate |
| http://purl.obolibrary.org/obo/CHEBI_78115 | fatty acid anion 4:0 |
| http://purl.obolibrary.org/obo/UBERON_0011371 | sternocephalicus muscle |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity |
| HP:0007182 | Peripheral hypomyelination |
| HP:0007179 | Absent smooth pursuit |
| http://purl.obolibrary.org/obo/UBERON_0011375 | skin of prepuce of clitoris |
| http://purl.obolibrary.org/obo/UBERON_0005298 | skin of clitoris |
| http://purl.obolibrary.org/obo/UBERON_0011379 | male external urethral sphincter |
| http://purl.obolibrary.org/obo/UBERON_0004919 | external urethral sphincter |
| http://purl.obolibrary.org/obo/UBERON_0004917 | urethral sphincter |
| HP:0032122 | Very low visual acuity |
| HP:0032121 | Froment sign |
| HP:0032120 | Abnormal peripheral nervous system physiology |
| HP:0032126 | Decreased proportion of unswitched memory B cells |
| HP:0010750 | Dermatochalasis |
| HP:0032125 | Increased proportion of unswitched memory B cells |
| HP:0010751 | Dimple chin |
| HP:0000306 | Abnormality of the chin |
| HP:0032124 | Abnormal proportion of unswitched memory B cells |
| HP:0010752 | Cleft mandible |
| HP:0010753 | Midline defect of mandible |
| HP:0020148 | Increased circulating mead acid level |
| HP:0020149 | Elevated circulating succinate |
| http://purl.obolibrary.org/obo/UBERON_0001985 | corneal endothelium |
| http://purl.obolibrary.org/obo/UBERON_0001988 | feces |
| http://purl.obolibrary.org/obo/UBERON_0001987 | placenta |
| HP:0009761 | Anterior clefting of vertebral bodies |
| HP:0020142 | Blood pressure substantially higher in arms than legs |
| HP:0007100 | Progressive ventriculomegaly |
| HP:0020143 | Tracheal duplication cyst |
| HP:0009762 | Facial wrinkling |
| HP:0020140 | History of recent tick bite |
| HP:0009760 | Antecubital pterygium |
| HP:0001059 | Pterygium |
| HP:0020141 | Blood pressure substantially higher in legs than arms |
| http://purl.obolibrary.org/obo/UBERON_0011306 | deep part of temporalis |
| HP:0020146 | Calcium carbonate crystalluria |
| HP:0009765 | Low hanging columella |
| HP:0007104 | Prolonged somatosensory evoked potentials |
| HP:0020147 | 2-Methylbutyryl glycinuria |
| HP:0020144 | Calcium phosphate crystalluria |
| HP:0020145 | Calcium oxalate crystalluria |
| HP:0009769 | Bullet-shaped phalanges of the hand |
| HP:0007107 | Segmental peripheral demyelination |
| HP:0010755 | Asymmetry of the maxilla |
| HP:0032129 | Decreased proportion of plasmablasts |
| HP:0032128 | Increased proportion of plasmablasts |
| HP:0007105 | Infantile encephalopathy |
| HP:0010757 | Aplasia of the premaxilla |
| HP:0010756 | Aplasia/Hypoplasia of the premaxilla |
| HP:0032127 | Abnormal plasmablast proportion |
| HP:0010759 | Prominence of the premaxilla |
| HP:0007109 | Periventricular cysts |
| HP:0032111 | Abnormal Vistech contrast sensitivity test |
| HP:0032110 | Severely reduced contrast sensitivity |
| HP:0010761 | Broad columella |
| HP:0010762 | Chordoma |
| HP:0032113 | Semidominant mode of inheritance |
| HP:0010763 | Low insertion of columella |
| HP:0032112 | Abnormal Pelli Robson contrast sensitivity chart test |
| http://purl.obolibrary.org/obo/CHEBI_22331 | alkylamines |
| http://purl.obolibrary.org/obo/CHEBI_32952 | amine |
| HP:0020139 | History of recent insect bite |
| HP:0020137 | Anticardiolipin IgM antibody positivity |
| HP:0020138 | History of recent animal bite |
| http://purl.obolibrary.org/obo/UBERON_0001994 | hyaline cartilage tissue |
| http://purl.obolibrary.org/obo/CHEBI_24996 | lactate |
| HP:0009780 | Iliac horns |
| HP:0003796 | Irregular iliac crest |
| http://purl.obolibrary.org/obo/CHEBI_24995 | lactam |
| http://purl.obolibrary.org/obo/CHEBI_23443 | cyclic amide |
| http://purl.obolibrary.org/obo/UBERON_0001996 | elastic cartilage tissue |
| http://purl.obolibrary.org/obo/UBERON_0011589 | non-mineralized cartilage tissue |
| HP:0007111 | Chronic hepatic encephalopathy |
| HP:0002480 | Hepatic encephalopathy |
| HP:0009772 | Patchy sclerosis of finger phalanx |
| HP:0100899 | Sclerosis of finger phalanx |
| HP:0004286 | Patchy sclerosis of hand bones |
| HP:0004281 | Irregular sclerosis of hand bones |
| HP:0004054 | Sclerosis of hand bone |
| HP:0020132 | Thickening of the tubular basement membrane |
| HP:0009773 | Symphalangism affecting the phalanges of the hand |
| HP:0007110 | Central hypoventilation |
| HP:0002791 | Hypoventilation |
| HP:0009770 | Curved phalanges of the hand |
| http://purl.obolibrary.org/obo/UBERON_0011318 | capsule of temporomandibular joint |
| HP:0020130 | Increased urinary neutrophil gelatinase-associated lipocalin |
| HP:0009771 | Osteolytic defects of the phalanges of the hand |
| HP:0009699 | Osteolytic defects of the hand bones |
| HP:0045039 | Osteolysis involving bones of the upper limbs |
| HP:0002797 | Osteolysis |
| HP:0020135 | Myofibromatosis |
| HP:0031459 | Soft tissue neoplasm |
| HP:0009776 | Adactyly |
| HP:0007115 | Orbital encephalocele |
| HP:0020136 | Anticardiolipin IgG antibody positivity |
| HP:0003613 | Antiphospholipid antibody positivity |
| HP:0009777 | Absent thumb |
| HP:0009686 | Absent epiphyses of the thumb |
| HP:0010228 | Absent epiphyses of the phalanges of the hand |
| HP:0009599 | Abnormality of thumb epiphysis |
| HP:0020133 | Podocyte hypertrophy |
| HP:0031265 | Abnormal podocyte morphology |
| HP:0009775 | Amniotic constriction ring |
| HP:0020134 | Increased urine neutrophil count |
| HP:0012085 | Pyuria |
| HP:0007112 | Temporal cortical atrophy |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002059 | Cerebral atrophy |
| HP:0002472 | Small cerebral cortex |
| HP:0032119 | Narrow angle glaucoma |
| HP:0000501 | Glaucoma |
| HP:0032118 | Retinitis |
| HP:0007117 | Corticospinal tract atrophy |
| HP:0009779 | 3-4 toe syndactyly |
| HP:0032116 | Macrosquare-wave jerks |
| HP:0032114 | Saccadic intrusion |
| HP:0010769 | Pilonidal sinus |
| http://purl.obolibrary.org/obo/UBERON_0035322 | right common iliac artery |
| http://purl.obolibrary.org/obo/UBERON_0011314 | anterior subdivision of masseter |
| http://purl.obolibrary.org/obo/UBERON_0011313 | posterior subdivision of masseter |
| HP:0032100 | Abnormal doll's eye reflex |
| HP:0010770 | Pilonidal fistula |
| HP:0010771 | Pilonidal abscess |
| HP:0010767 | Sacrococcygeal pilonidal abnormality |
| HP:0010773 | Partial anomalous pulmonary venous return |
| HP:0010774 | Cor triatriatum |
| HP:0032102 | Wilson sign |
| HP:0010775 | Vascular ring |
| HP:0011587 | Abnormal branching pattern of the aortic arch |
| HP:0020128 | Aplasia of the olfactory tract |
| HP:0020126 | Prostate mass |
| HP:0008775 | Abnormal prostate morphology |
| HP:0020127 | Periarticular soft-tissue mass |
| HP:0009790 | Hemisacrum |
| HP:0009791 | Bifid sacrum |
| HP:0008490 | Sacral segmentation defect |
| HP:0020120 | Retinal nerve fiber edema |
| HP:0009783 | Biceps aplasia |
| HP:0020121 | Conception by assisted reproductive technology |
| HP:0009781 | Lester's sign |
| HP:0009782 | Aplasia/Hypoplasia of the biceps |
| HP:0020125 | Spontaneous conjunctival filtering bleb |
| HP:0009788 | Quadriceps aplasia |
| HP:0009787 | Aplasia/Hypoplasia of the quadriceps |
| HP:0020122 | Bite cells |
| HP:0009785 | Triceps aplasia |
| HP:0009784 | Aplasia/Hypoplasia of the triceps |
| HP:0001468 | Aplasia/Hypoplasia involving the musculature of the upper arm |
| HP:0001457 | Abnormality of the musculature of the upper arm |
| HP:0100854 | Aplasia of the musculature |
| HP:0020123 | Tympanosclerosis |
| HP:0009786 | Aplasia/Hypoplasia of the musculature of the thigh |
| HP:0007123 | Subcortical dementia |
| http://purl.obolibrary.org/obo/UBERON_0035316 | prostatic capsule |
| HP:0032108 | Mildly reduced contrast sensitivity |
| HP:0010776 | Tracheobronchmegaly |
| http://purl.obolibrary.org/obo/UBERON_0011322 | mylohyoid nerve |
| HP:0007129 | Cerebellar medulloblastoma |
| HP:0002885 | Medulloblastoma |
| HP:0010777 | Bronchomegaly |
| HP:0032107 | Limbal stem cell deficiency |
| http://purl.obolibrary.org/obo/UBERON_0011321 | masseteric nerve |
| HP:0009789 | Perianal abscess |
| HP:0031292 | Cutaneous abscess |
| HP:0032106 | Conjunctival icterus |
| HP:0010778 | Tracheomegaly |
| http://purl.obolibrary.org/obo/UBERON_0011320 | ligament of temporomandibular joint |
| HP:0032105 | Macrosaccadic oscillations |
| HP:0032104 | Saccadic oscillation |
| HP:0010779 | Large pelvis bone |
| http://purl.obolibrary.org/obo/UBERON_0035313 | posterior wall of laryngopharynx |
| HP:0032109 | Moderately reduced contrast sensitivity |
| HP:0032036 | Abnormal contrast sensitivity |
| HP:0010780 | Hyperacusis |
| HP:0025112 | Sound sensitivity |
| HP:0010782 | Shoulder dimple |
| HP:0020117 | Hypoplastic dermoepidermal hemidesmosomes |
| HP:0020118 | Radial artery aplasia |
| HP:0031640 | Abnormal radial artery morphology |
| HP:0007133 | Progressive peripheral neuropathy |
| HP:0020110 | Bone fracture |
| HP:0009795 | Branchial fistula |
| HP:0007132 | Pallidal degeneration |
| HP:0012157 | Subcortical cerebral atrophy |
| HP:0002453 | Abnormal globus pallidus morphology |
| HP:0007131 | Acute demyelinating polyneuropathy |
| HP:0009793 | Presacral teratoma |
| HP:0020113 | Decreased proportion of CD4+CD25+ regulatory T cells |
| HP:0009798 | Euthyroid goiter |
| HP:0020114 | Persistent human papillomavirus infection |
| HP:0009799 | Supernumerary spleens |
| HP:0009796 | Branchial cyst |
| HP:0009794 | Branchial anomaly |
| HP:0020112 | Increased proportion of CD4+CD25+ regulatory T cells |
| HP:0020111 | Abnormal CD4+CD25+ regulatory T cell proportion |
| HP:0009797 | Cholesteatoma |
| HP:0100799 | Neoplasm of the middle ear |
| HP:0010788 | Testicular neoplasm |
| HP:0100848 | Neoplasm of the male external genitalia |
| HP:0033019 | Male reproductive system neoplasm |
| http://purl.obolibrary.org/obo/UBERON_0011332 | extrinsic tongue pre-muscle mass |
| HP:0010789 | Abnormality of the Leydig cells |
| HP:0032165 | Placental mesenchymal dysplasia |
| HP:0032164 | Increased blood folate concentration |
| http://purl.obolibrary.org/obo/UBERON_0001949 | gingival epithelium |
| http://purl.obolibrary.org/obo/UBERON_0002424 | oral epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006915 | stratified squamous epithelium |
| HP:0032168 | Clostridium difficile colitis |
| HP:0032167 | Clostridium difficile enteritis |
| HP:0032166 | Unusual gastrointestinal infection |
| HP:0032161 | Coccidioidal meningitis |
| HP:0032160 | Cryptococcal meningitis |
| http://purl.obolibrary.org/obo/UBERON_0001943 | midbrain tegmentum |
| HP:0020186 | Multilobulated spleen |
| HP:0020184 | Decreased circulating A-type natriuretic peptide level |
| HP:0020185 | Superior cerebellar dysplasia |
| HP:0007033 | Cerebellar dysplasia |
| HP:0020188 | Anterior predominant pachygyria with 5-10 mm cortical thickness |
| HP:0020189 | Posterior predominant thick cortex pachygyria |
| HP:0020183 | Increased circulating A-type natriuretic peptide level |
| HP:0020182 | Abnormal A-type atrial natriuretic peptide level |
| HP:0020180 | Elevated haptoglobin level |
| HP:0020181 | Reduced haptoglobin level |
| HP:0032155 | Abdominal cramps |
| http://purl.obolibrary.org/obo/UBERON_0001957 | submucosa of bronchus |
| http://purl.obolibrary.org/obo/UBERON_0004777 | respiratory system submucosa |
| HP:0032154 | Aphthous ulcer |
| http://purl.obolibrary.org/obo/UBERON_0001956 | cartilage of bronchus |
| http://purl.obolibrary.org/obo/UBERON_0001959 | white pulp of spleen |
| http://purl.obolibrary.org/obo/UBERON_1000023 | spleen pulp |
| HP:0032152 | Keratosis pilaris |
| http://purl.obolibrary.org/obo/UBERON_0001958 | terminal bronchiole epithelium |
| http://purl.obolibrary.org/obo/UBERON_0002051 | epithelium of bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0002031 | epithelium of bronchus |
| HP:0032159 | Fungal meningitis |
| HP:0001287 | Meningitis |
| HP:0032157 | Recurrent genital herpes |
| HP:0032156 | Skin detachment |
| http://purl.obolibrary.org/obo/UBERON_0001951 | epithelium of nasopharynx |
| http://purl.obolibrary.org/obo/UBERON_0004814 | upper respiratory tract epithelium |
| http://purl.obolibrary.org/obo/UBERON_0001950 | neocortex |
| HP:0032151 | Episodic eosinophilia |
| HP:0001880 | Eosinophilia |
| HP:0020064 | Abnormal eosinophil count |
| HP:0001879 | Abnormal eosinophil morphology |
| HP:0032150 | Paroxysmal rectal pain |
| HP:0500005 | Anal pain |
| http://purl.obolibrary.org/obo/UBERON_0001954 | Ammon's horn |
| HP:0020175 | Reduced cholinesterase level |
| HP:0020176 | Cholesterol crystalluria |
| HP:0020173 | Reduced drug efficacy |
| HP:0020174 | Refractory drug response |
| HP:0020179 | Abnormal haptoglobin level |
| HP:0020177 | Abnormal proportion of CD8-positive, alpha-beta TEMRA T cells |
| HP:0020178 | Abnormal dendritic cell count |
| HP:0020171 | Decreased blood drug concentration |
| HP:0020172 | Adverse drug response |
| HP:0020170 | Increased blood drug concentration |
| http://purl.obolibrary.org/obo/UBERON_0001968 | semen |
| HP:0032144 | Coffee ground vomitus |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0032143 | Burning mouth |
| HP:0032142 | Fetor hepaticus |
| HP:0100812 | Breath odour |
| HP:0032141 | Precordial pain |
| HP:0100749 | Chest pain |
| http://purl.obolibrary.org/obo/UBERON_0001969 | blood plasma |
| HP:0032147 | Erythromelalgia |
| HP:0032146 | HbC hemoglobin |
| HP:0032145 | Sural nerve atrophy |
| http://purl.obolibrary.org/obo/UBERON_0001963 | bronchial-associated lymphoid tissue |
| HP:0020164 | Ophthalmic artery occlusion |
| HP:0020165 | Branch retinal vein occlusion |
| HP:0020163 | Cilioretinal artery occlusion |
| HP:0020169 | Abnormal drug response |
| HP:0020166 | Central retinal vein occlusion |
| HP:0020167 | Hemiretinal vein occlusion |
| HP:0012636 | Retinal vein occlusion |
| HP:0032149 | Breakthrough pain |
| HP:0032148 | Episodic pain |
| HP:0020160 | GM1-ganglioside accumulation |
| HP:0020161 | Branch retinal artery occlusion |
| HP:0025326 | Retinal arterial occlusion |
| HP:0032133 | Transient decreased circulating total IgG |
| http://purl.obolibrary.org/obo/UBERON_0001978 | parenchyma of pancreas |
| HP:0032131 | Cervical dysplasia |
| HP:0032130 | Mycobacterium abscessus abscessus infection |
| HP:0032137 | Decreased circulating IgG3 level |
| HP:0032136 | Decreased circulating IgG1 level |
| HP:0032134 | Chronic decreased circulating total IgG |
| HP:0032132 | Decreased circulating total IgG |
| http://purl.obolibrary.org/obo/UBERON_0001971 | gastric juice |
| http://purl.obolibrary.org/obo/UBERON_0001970 | bile |
| HP:0020159 | Reduced response to gonadotropin-releasing hormone stimulation test |
| HP:0031279 | Abnormal response to gonadotropin-releasing hormone stimulation test |
| HP:0031073 | Abnormal response to endocrine stimulation test |
| HP:0031072 | Abnormal endocrine physiology |
| http://purl.obolibrary.org/obo/UBERON_0001972 | submucosa of esophagus |
| http://purl.obolibrary.org/obo/UBERON_0001974 | lamina propria of esophagus |
| http://purl.obolibrary.org/obo/UBERON_0001977 | blood serum |
| http://purl.obolibrary.org/obo/UBERON_0001976 | epithelium of esophagus |
| HP:0020153 | Positive blood 1,3 beta glucan test |
| http://purl.obolibrary.org/obo/NBO_0002603 | regulation of sexual activity |
| HP:0020154 | Nevus comedonicus |
| HP:0010816 | Epidermal nevus |
| HP:0020151 | Anti-DNA antibody positivity |
| HP:0020152 | Distal joint laxity |
| HP:0001388 | Joint laxity |
| HP:0020157 | Thin zona pellucida |
| HP:0020158 | Increased circulating adrenic acid concentration |
| HP:0020156 | Abnormal zona pellucida morphology |
| HP:0020155 | Abnormal oocyte morphology |
| HP:0032139 | Reduced isohemagglutinin level |
| HP:0032138 | Decreased circulating IgG4 level |
| HP:0032135 | Decreased circulating IgG subclass level |
| HP:0004315 | Decreased circulating IgG level |
| HP:0020150 | Elevated urinary uromodulin |
| http://purl.obolibrary.org/obo/UBERON_0001905 | pineal body |
| http://purl.obolibrary.org/obo/UBERON_0010134 | secretory circumventricular organ |
| http://purl.obolibrary.org/obo/UBERON_0010133 | neuroendocrine gland |
| http://purl.obolibrary.org/obo/UBERON_0005408 | circumventricular organ |
| http://purl.obolibrary.org/obo/UBERON_0001908 | optic tract |
| HP:0007190 | Neuronal loss in the cerebral cortex |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0007193 | Generalized tonic-clonic seizures on awakening |
| HP:0007188 | Congenital facial diplegia |
| HP:0001349 | Facial diplegia |
| HP:0010628 | Facial palsy |
| HP:0010827 | Abnormality of the seventh cranial nerve |
| HP:0006824 | Cranial nerve paralysis |
| HP:0007187 | Focal lissencephaly |
| HP:0007185 | Loss of consciousness |
| HP:0004372 | Reduced consciousness/confusion |
| http://purl.obolibrary.org/obo/CHEBI_36902 | chalcogen hydride |
| http://purl.obolibrary.org/obo/CHEBI_33242 | inorganic hydride |
| http://purl.obolibrary.org/obo/UBERON_0001913 | milk |
| http://purl.obolibrary.org/obo/UBERON_0006539 | mammary gland fluid/secretion |
| http://purl.obolibrary.org/obo/UBERON_0001912 | lobule of mammary gland |
| HP:0032198 | Decreased prothrombin time |
| HP:0032199 | Abnormal prothrombin time |
| HP:0032197 | Deep S wave in lead V5 |
| HP:0032196 | Prominent S wave in lead I |
| http://purl.obolibrary.org/obo/UBERON_0001917 | endothelium of artery |
| http://purl.obolibrary.org/obo/UBERON_0001916 | endothelium of arteriole |
| http://purl.obolibrary.org/obo/UBERON_0004700 | arterial system endothelium |
| http://purl.obolibrary.org/obo/UBERON_0001919 | endothelium of vein |
| http://purl.obolibrary.org/obo/UBERON_0001918 | endothelium of venule |
| http://purl.obolibrary.org/obo/UBERON_0004701 | venous system endothelium |
| HP:0032191 | Torn meniscus |
| HP:0032190 | Abnormal meniscus morphology |
| HP:0032195 | Abnormal S wave |
| HP:0012249 | Abnormal ST segment |
| HP:0032193 | Decreased low-density lipoprotein particle size |
| HP:0032192 | Hydatidiform mole |
| HP:0007199 | Progressive spastic paraparesis |
| HP:0002313 | Spastic paraparesis |
| HP:0002061 | Lower limb spasticity |
| HP:0001257 | Spasticity |
| HP:0001276 | Hypertonia |
| HP:0002385 | Paraparesis |
| HP:0010551 | Paraplegia/paraparesis |
| HP:0032188 | Cellular hypersensitivity to mitomycin C |
| HP:0032187 | Anal intraepithelial neoplasia |
| HP:0032186 | Anal neoplasm |
| HP:0032185 | Disseminated molluscum contagiosum |
| HP:0032163 | Molluscum contagiosum |
| HP:0032189 | Cellular hypersensitivity to diepoxybutane |
| HP:0032181 | Anomalous hepatic venous drainage into the left atrium |
| HP:0032177 | Parenchymal consolidation |
| HP:0032176 | Apical pulmonary opacity |
| HP:0032175 | Signet ring sign |
| HP:0032174 | Tree-in-bud pattern |
| HP:0032178 | Flaky paint dermatosis |
| HP:0032173 | Continuous diaphragm sign |
| HP:0032172 | Air crescent sign |
| HP:0032171 | Bladder pain |
| HP:0032170 | Severe varicella zoster infection |
| HP:0031691 | Severe viral infection |
| HP:0020197 | Increased circulating arachidonic acid level |
| HP:0020195 | IgG heavy chain paraproteinemia |
| HP:0020196 | IgM heavy chain paraproteinemia |
| HP:0020199 | Decreased circulating 18-hydroxycortisone level |
| HP:0020190 | Perisylvian predominant thick cortex pachygyria |
| HP:0020193 | Prolonged reptilase time |
| HP:0020194 | IgA heavy chain paraproteinemia |
| HP:0031049 | Heavy-chain paraproteinemia |
| HP:0020191 | Anterior predominant thick cortex pachygyria |
| HP:0020187 | Thick pachygyria |
| HP:0020192 | Pachygyria with 5-10 mm cortical thickness |
| HP:0001302 | Pachygyria |
| http://purl.obolibrary.org/obo/GO_0034250 | positive regulation of cellular amide metabolic process |
| http://purl.obolibrary.org/obo/GO_0048871 | multicellular organismal homeostasis |
| http://purl.obolibrary.org/obo/GO_0048873 | homeostasis of number of cells within a tissue |
| http://purl.obolibrary.org/obo/GO_0001894 | tissue homeostasis |
| http://purl.obolibrary.org/obo/GO_0060249 | anatomical structure homeostasis |
| HP:0009909 | Uplifted earlobe |
| HP:0009907 | Attached earlobe |
| HP:0009908 | Anterior creases of earlobe |
| HP:0009901 | Crumpled ear |
| HP:0009902 | Cleft helix |
| HP:0009900 | Unilateral deafness |
| HP:0009905 | Thin ear helix |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes |
| HP:0000363 | Abnormality of earlobe |
| HP:0009903 | Conjunctival nodule |
| HP:0009904 | Prominent ear helix |
| HP:0009918 | Ectopia pupillae |
| HP:0009919 | Retinoblastoma |
| HP:0012777 | Retinal neoplasm |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11249 | SPN (human) |
| HP:0010906 | Hyperhistidinemia |
| HP:0010908 | Abnormal circulating lysine concentration |
| HP:0009913 | Aplasia/Hypoplasia of the tragus |
| HP:0009912 | Abnormality of the tragus |
| HP:0009910 | Aplasia of the middle ear ossicles |
| http://purl.obolibrary.org/obo/GO_0048845 | venous blood vessel morphogenesis |
| http://purl.obolibrary.org/obo/GO_0048514 | blood vessel morphogenesis |
| http://purl.obolibrary.org/obo/GO_0035239 | tube morphogenesis |
| HP:0009916 | Anisocoria |
| HP:0009917 | Persistent pupillary membrane |
| HP:0009914 | Cyclopia |
| HP:0009915 | Corneal asymmetry |
| HP:0010904 | Abnormal circulating histidine concentration |
| http://purl.obolibrary.org/obo/NBO_0000339 | motor coordination |
| http://purl.obolibrary.org/obo/CHEBI_71671 | aldonate(1-) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11241 | SPI1 (human) |
| http://purl.obolibrary.org/obo/CHEBI_71666 | gamma-amino acid anion |
| http://purl.obolibrary.org/obo/PR_P28906 | hematopoietic progenitor cell antigen CD34 (human) |
| http://purl.obolibrary.org/obo/PR_000001003 | CD34 molecule |
| http://purl.obolibrary.org/obo/PR_P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 (human) |
| http://purl.obolibrary.org/obo/PR_000001408 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 |
| http://purl.obolibrary.org/obo/PR_000001281 | ADP-ribosyl cyclase |
| http://purl.obolibrary.org/obo/UBERON_5003624 | manual digit 4 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5003623 | manual digit 3 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5003625 | manual digit 5 plus metapodial segment |
| http://purl.obolibrary.org/obo/GO_1901464 | negative regulation of tetrapyrrole biosynthetic process |
| HP:0010950 | Abnormality of the fourth ventricle |
| http://purl.obolibrary.org/obo/GO_0009235 | cobalamin metabolic process |
| http://purl.obolibrary.org/obo/GO_1901465 | positive regulation of tetrapyrrole biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1901463 | regulation of tetrapyrrole biosynthetic process |
| http://purl.obolibrary.org/obo/UBERON_5003622 | manual digit 2 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5002389 | manual digit plus metapodial segment |
| HP:0007302 | Bipolar affective disorder |
| HP:0100754 | Mania |
| HP:0007301 | Oromotor apraxia |
| HP:0009967 | Complete duplication of the proximal phalanx of the 3rd finger |
| HP:0010952 | Mild fetal ventriculomegaly |
| HP:0002119 | Ventriculomegaly |
| HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger |
| HP:0010953 | Noncommunicating hydrocephalus |
| HP:0000238 | Hydrocephalus |
| HP:0009965 | Complete duplication of the distal phalanx of the 3rd finger |
| HP:0009962 | Duplication of the distal phalanx of the 3rd finger |
| HP:0009357 | Abnormality of the distal phalanx of the 3rd finger |
| HP:0010954 | Hypoplastic right heart |
| HP:0011723 | Congenital malformation of the right heart |
| HP:0009966 | Complete duplication of the middle phalanx of the 3rd finger |
| HP:0009960 | Complete duplication of the phalanges of the 3rd finger |
| HP:0010956 | Fetal megacystis |
| HP:0010955 | Dilatation of the bladder |
| http://www.informatics.jax.org/marker/MGI:97281 | Ncam1 (mouse) |
| HP:0010957 | Congenital posterior urethral valve |
| HP:0010481 | Urethral valve |
| HP:0000796 | Urethral obstruction |
| HP:0009969 | Partial duplication of the middle phalanx of the 3rd finger |
| HP:0009963 | Duplication of the middle phalanx of the 3rd finger |
| HP:0004172 | Abnormality of the middle phalanx of the 3rd finger |
| HP:0007308 | Extrapyramidal dyskinesia |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0010958 | Bilateral renal agenesis |
| HP:0000104 | Renal agenesis |
| HP:0008678 | Renal hypoplasia/aplasia |
| HP:0007307 | Rapid neurologic deterioration |
| HP:0010959 | Congenital cystic adenomatoid malformation of the lung |
| http://purl.obolibrary.org/obo/UBERON_5003635 | pedal digit 5 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5006052 | digit 5 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5003634 | pedal digit 4 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5006051 | digit 4 plus metapodial segment |
| HP:0010961 | Intralobar sequestration |
| HP:0010962 | Extralobar sequestration |
| HP:0010960 | Bronchopulmonary sequestration |
| http://purl.obolibrary.org/obo/UBERON_5003631 | pedal digit 1 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5006048 | digit 1 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5003633 | pedal digit 3 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5006050 | digit 3 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5003632 | pedal digit 2 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5006049 | digit 2 plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5001466 | pedal digit plus metapodial segment |
| http://purl.obolibrary.org/obo/UBERON_5002544 | digit plus metapodial segment |
| HP:0009970 | Partial duplication of the proximal phalanx of the 3rd finger |
| HP:0009964 | Duplication of the proximal phalanx of the 3rd finger |
| HP:0009358 | Abnormality of the proximal phalanx of the 3rd finger |
| HP:0009961 | Partial duplication of the phalanges of the 3rd finger |
| HP:0007313 | Cerebral degeneration |
| HP:0007311 | Short stepped shuffling gait |
| HP:0002362 | Shuffling gait |
| HP:0009978 | Complete duplication of the distal phalanx of the 4th finger |
| HP:0010963 | Absence of stomach bubble on fetal sonography |
| HP:0009979 | Complete duplication of the middle phalanx of the 4th finger |
| HP:0010965 | Abnormal circulating phytanic acid level |
| HP:0010971 | Absence of Lutheran antigen on erythrocytes |
| HP:0010970 | Blood group antigen abnormality |
| HP:0009981 | Partial duplication of the distal phalanx of the 4th finger |
| HP:0009975 | Duplication of the distal phalanx of the 4th finger |
| HP:0009282 | Abnormality of the distal phalanx of the 4th finger |
| HP:0009982 | Partial duplication of the middle phalanx of the 4th finger |
| HP:0009976 | Duplication of the middle phalanx of the 4th finger |
| HP:0009283 | Abnormality of the middle phalanx of the 4th finger |
| HP:0009980 | Complete duplication of the proximal phalanx of the 4th finger |
| HP:0009973 | Complete duplication of the phalanges of the 4th finger |
| HP:0009983 | Partial duplication of the proximal phalanx of the 4th finger |
| HP:0009977 | Duplication of the proximal phalanx of the 4th finger |
| HP:0009284 | Abnormality of the proximal phalanx of the 4th finger |
| HP:0009974 | Partial duplication of the phalanges of the 4th finger |
| HP:0009972 | Duplication of phalanx of 4th finger |
| HP:0009971 | Polydactyly affecting the 4th finger |
| HP:0009172 | Abnormal 4th finger phalanx morphology |
| HP:0007321 | Deep white matter hypodensities |
| HP:0007328 | Impaired pain sensation |
| HP:0007327 | Mixed demyelinating and axonal polyneuropathy |
| HP:0007326 | Progressive choreoathetosis |
| HP:0001266 | Choreoathetosis |
| HP:0002072 | Chorea |
| HP:0007325 | Generalized dystonia |
| HP:0001332 | Dystonia |
| HP:0010977 | Abnormal phagocytosis |
| http://purl.obolibrary.org/obo/UBERON_0035237 | branch of internal carotid artery |
| HP:0010982 | Polygenic inheritance |
| HP:0010983 | Oligogenic inheritance |
| HP:0010984 | Digenic inheritance |
| HP:0001426 | Multifactorial inheritance |
| HP:0009992 | Complete duplication of the middle phalanx of the 5th finger |
| HP:0009993 | Complete duplication of the proximal phalanx of the 5th finger |
| HP:0007330 | Frontal encephalocele |
| HP:0002084 | Encephalocele |
| HP:0011815 | Cephalocele |
| HP:0009991 | Complete duplication of the distal phalanx of the 5th finger |
| HP:0009986 | Complete duplication of the phalanges of the 5th finger |
| HP:0009996 | Partial duplication of the proximal phalanx of the 5th finger |
| HP:0009990 | Duplication of the proximal phalanx of the 5th finger |
| HP:0009150 | Abnormality of the proximal phalanx of the 5th finger |
| HP:0007335 | Recurrent encephalopathy |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0009994 | Partial duplication of the distal phalanx of the 5th finger |
| HP:0009988 | Duplication of the distal phalanx of the 5th finger |
| HP:0007333 | Hypoplasia of the frontal lobes |
| HP:0006872 | Cerebral hypoplasia |
| HP:0009995 | Partial duplication of the middle phalanx of the 5th finger |
| HP:0009989 | Duplication of the middle phalanx of the 5th finger |
| HP:0009987 | Partial duplication of the phalanges of the 5th finger |
| HP:0009985 | Duplication of phalanx of 5th finger |
| HP:0010985 | Gonosomal inheritance |
| HP:0007338 | Hypermetric saccades |
| HP:0010988 | Abnormality of the extrinsic pathway |
| HP:0009929 | Abnormality of the columella |
| http://purl.obolibrary.org/obo/GO_0010256 | endomembrane system organization |
| http://purl.obolibrary.org/obo/UBERON_0035295 | left ear |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2983 | DNTT (human) |
| HP:0010918 | Abnormal circulating cysteine concentration |
| HP:0010919 | Abnormal circulating homocysteine concentration |
| HP:0009920 | Nevus of Ota |
| HP:0009921 | Duane anomaly |
| HP:0025068 | Incomitant strabismus |
| HP:0010910 | Hypervalinemia |
| http://purl.obolibrary.org/obo/UBERON_0011265 | carpometacarpal joint of digit 1 |
| HP:0009922 | Vascular remnant arising from the disc |
| HP:0010911 | Hyperleucinemia |
| HP:0004357 | Abnormal circulating leucine concentration |
| HP:0009927 | Aplasia of the nose |
| HP:0009928 | Thick nasal alae |
| HP:0010913 | Hyperisoleucinemia |
| HP:0010912 | Abnormal circulating isoleucine concentration |
| HP:0010914 | Abnormal circulating valine concentration |
| HP:0009926 | Epiphora |
| HP:0000632 | Lacrimation abnormality |
| http://purl.obolibrary.org/obo/UBERON_0011270 | dorsal trunk |
| http://purl.obolibrary.org/obo/UBERON_0011275 | nail of manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0011274 | nail of manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0011273 | nail of manual digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0011272 | embryonic skin basal layer |
| HP:0009930 | Asymmetry of the nares |
| HP:0009931 | Enlarged naris |
| http://purl.obolibrary.org/obo/UBERON_0011279 | nail of pedal digit 2 |
| HP:0009934 | Supernumerary naris |
| http://purl.obolibrary.org/obo/UBERON_0011278 | nail of pedal digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0011277 | nail of manual digit 5 |
| HP:0009932 | Single naris |
| HP:0010921 | Coralliform cataract |
| http://purl.obolibrary.org/obo/UBERON_0011276 | nail of manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0009565 | nail of manual digit |
| HP:0009933 | Narrow naris |
| HP:0010922 | Membranous cataract |
| HP:0009938 | Sunken cheeks |
| HP:0010923 | Anterior subcapsular cataract |
| HP:0009939 | Mandibular aplasia |
| HP:0009936 | Narrow nasal septum |
| HP:0010925 | Nuclear punctate cataract |
| HP:0009937 | Facial hirsutism |
| HP:0010926 | Aculeiform cataract |
| http://purl.obolibrary.org/obo/UBERON_0011282 | nail of pedal digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0011281 | nail of pedal digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0011280 | nail of pedal digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0009567 | nail of pedal digit |
| http://purl.obolibrary.org/obo/GO_0009295 | nucleoid |
| http://purl.obolibrary.org/obo/GO_1901402 | negative regulation of tetrapyrrole metabolic process |
| http://purl.obolibrary.org/obo/GO_1901403 | positive regulation of tetrapyrrole metabolic process |
| http://purl.obolibrary.org/obo/GO_1901401 | regulation of tetrapyrrole metabolic process |
| HP:0009941 | Asymmetry of the mouth |
| HP:0009940 | Asymmetry of the mandible |
| HP:0000267 | Cranial asymmetry |
| http://purl.obolibrary.org/obo/UBERON_0011289 | pharyngobasilar fascia |
| http://purl.obolibrary.org/obo/UBERON_0006614 | aponeurosis |
| HP:0009943 | Complete duplication of thumb phalanx |
| HP:0009944 | Partial duplication of thumb phalanx |
| HP:0009942 | Duplication of thumb phalanx |
| HP:0010933 | Hyperxanthinemia |
| HP:0004368 | Increased purine level |
| HP:0004352 | Abnormal circulating purine concentration |
| HP:0010932 | Abnormal circulating nucleobase concentration |
| HP:0010934 | Xanthinuria |
| HP:0010949 | Abnormality of umbilical vein blood flow |
| HP:0009952 | Complete duplication of the middle phalanx of the 2nd finger |
| HP:0010002 | Complete duplication of the middle phalanges of the hand |
| HP:0009953 | Partial duplication of the middle phalanx of the 2nd finger |
| HP:0010005 | Partial duplication of the middle phalanges of the hand |
| HP:0009949 | Duplication of the middle phalanx of the 2nd finger |
| HP:0010008 | Duplication of the middle phalanx of hand |
| HP:0009834 | Abnormal proximal phalanx morphology of the hand |
| HP:0009543 | Abnormality of the middle phalanx of the 2nd finger |
| HP:0009950 | Complete duplication of the distal phalanx of the 2nd finger |
| HP:0010001 | Complete duplication of the distal phalanges of the hand |
| HP:0009951 | Partial duplication of the distal phalanx of the 2nd finger |
| HP:0010004 | Partial duplication of the distal phalanges of the hand |
| HP:0009948 | Duplication of the distal phalanx of the 2nd finger |
| HP:0009542 | Abnormality of the distal phalanx of the 2nd finger |
| HP:0010941 | Aplasia of the nasal bone |
| HP:0010940 | Aplasia/Hypoplasia of the nasal bone |
| HP:0010942 | Echogenic intracardiac focus |
| HP:0009954 | Complete duplication of the proximal phalanx of the 2nd finger |
| HP:0010000 | Complete duplication of the proximal phalanges of the hand |
| HP:0009957 | Complete duplication of the phalanges of the 2nd finger |
| HP:0009998 | Complete duplication of phalanx of hand |
| HP:0010943 | Echogenic fetal bowel |
| http://purl.obolibrary.org/obo/UBERON_0011298 | submucosa of uterine tube |
| HP:0009955 | Partial duplication of the proximal phalanx of the 2nd finger |
| HP:0009956 | Partial duplication of the phalanges of the 2nd finger |
| HP:0010003 | Partial duplication of the proximal phalanges of the hand |
| HP:0009999 | Partial duplication of the phalanx of hand |
| HP:0009947 | Duplication of the proximal phalanx of the 2nd finger |
| HP:0009945 | Duplication of phalanx of 2nd finger |
| HP:0009946 | Polydactyly affecting the 2nd finger |
| HP:0010006 | Duplication of the proximal phalanx of hand |
| HP:0009544 | Abnormality of the proximal phalanx of the 2nd finger |
| HP:0009541 | Abnormality of the phalanges of the 2nd finger |
| http://purl.obolibrary.org/obo/UBERON_0035267 | neck of gallbladder |
| HP:0010946 | Dilatation of the renal pelvis |
| HP:0010945 | Fetal pyelectasis |
| HP:0011425 | Fetal ultrasound soft marker |
| HP:0010947 | Abnormality of ductus venosus blood flow |
| HP:0009959 | Duplication of phalanx of 3rd finger |
| HP:0009316 | Abnormal 3rd finger phalanx morphology |
| HP:0009958 | Polydactyly affecting the 3rd finger |
| HP:0006159 | Mesoaxial hand polydactyly |
| HP:0100260 | Mesoaxial polydactyly |
| HP:0010948 | Abnormality of the fetal cardiovascular system |
| http://purl.obolibrary.org/obo/UBERON_0011220 | mastoid process of temporal bone |
| HP:0032203 | Lymphoid nodular hyperplasia |
| HP:0032202 | Vulvar intraepithelial neoplasia |
| HP:0032201 | Rotator cuff tear |
| HP:0032200 | Perivascular fibrosis |
| HP:0007272 | Progressive psychomotor deterioration |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0007271 | Occipital myelomeningocele |
| HP:0002436 | Occipital meningocele |
| HP:0007270 | Atypical absence seizure |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0011146 | Dialeptic seizure |
| http://purl.obolibrary.org/obo/CHEBI_22660 | aspartic acid |
| http://purl.obolibrary.org/obo/CHEBI_66873 | C4-dicarboxylic acid |
| HP:0007265 | Absent mesencephalon |
| HP:0002418 | Abnormality of midbrain morphology |
| HP:0007263 | Spinocerebellar atrophy |
| HP:0001272 | Cerebellar atrophy |
| HP:0007262 | Symmetric peripheral demyelination |
| HP:0007268 | Aprosencephaly |
| HP:0007267 | Chronic axonal neuropathy |
| HP:0007266 | Cerebral dysmyelination |
| http://purl.obolibrary.org/obo/GO_0000819 | sister chromatid segregation |
| http://purl.obolibrary.org/obo/GO_0098813 | nuclear chromosome segregation |
| HP:0032205 | Increased circulating galectin-3 level |
| HP:0032204 | Chronic active Epstein-Barr virus infection |
| http://purl.obolibrary.org/obo/CHEBI_5386 | globin |
| http://purl.obolibrary.org/obo/CHEBI_35137 | hemoprotein |
| http://purl.obolibrary.org/obo/CHEBI_35136 | iron protein |
| http://purl.obolibrary.org/obo/CHEBI_35134 | metalloprotein |
| http://purl.obolibrary.org/obo/CHEBI_33837 | conjugated protein |
| http://purl.obolibrary.org/obo/CHEBI_36080 | protein |
| http://purl.obolibrary.org/obo/CHEBI_33695 | information biomacromolecule |
| HP:0032208 | Increased urinary type 1 collagen N-terminal telopeptide level |
| http://purl.obolibrary.org/obo/CHEBI_22658 | aspartate family amino acid |
| http://purl.obolibrary.org/obo/CHEBI_46629 | oxo group |
| http://purl.obolibrary.org/obo/CHEBI_33246 | inorganic group |
| http://purl.obolibrary.org/obo/CHEBI_146500 | D-Galp-(1->3)-D-GalpNAc |
| http://purl.obolibrary.org/obo/CHEBI_22480 | amino disaccharide |
| http://purl.obolibrary.org/obo/CHEBI_63353 | disaccharide derivative |
| http://purl.obolibrary.org/obo/CHEBI_146306 | partially-defined glycan |
| http://purl.obolibrary.org/obo/CHEBI_22484 | galactosamine oligosaccharide |
| http://purl.obolibrary.org/obo/CHEBI_22483 | amino oligosaccharide |
| http://purl.obolibrary.org/obo/CHEBI_63563 | oligosaccharide derivative |
| HP:0020214 | Startle-induced seizure |
| HP:0020215 | Thinking-induced seizure |
| http://purl.obolibrary.org/obo/CHEBI_22653 | asparagine |
| http://purl.obolibrary.org/obo/CHEBI_35735 | dicarboxylic acid monoamide |
| http://purl.obolibrary.org/obo/CHEBI_23690 | dicarboxylic acid amide |
| HP:0020218 | Focal aware atonic seizure |
| HP:0007281 | Developmental stagnation |
| HP:0007280 | Acute infantile spinal muscular atrophy |
| HP:0007269 | Spinal muscular atrophy |
| HP:0007274 | Recurrent bacterial meningitis |
| HP:0006946 | Recurrent meningitis |
| HP:0020212 | Reading-induced seizure |
| HP:0020213 | Somatosensory-induced seizure |
| HP:0020210 | Praxis-induced seizure |
| HP:0020211 | Proprioceptive-induced seizure |
| HP:0007277 | Paucity of anterior horn motor neurons |
| http://purl.obolibrary.org/obo/UBERON_0011234 | fibrous membrane of synovial tendon sheath |
| http://purl.obolibrary.org/obo/UBERON_0011233 | synovial membrane of synovial tendon sheath |
| http://purl.obolibrary.org/obo/UBERON_0007616 | layer of synovial tissue |
| http://purl.obolibrary.org/obo/UBERON_0011241 | ethmoid region |
| HP:0020205 | Tubulointerstitial fungal infiltration |
| HP:0020206 | Simple ear |
| HP:0020203 | Z-band streaming |
| HP:0020204 | Tubulointerstitial bacterial infiltration |
| HP:0020209 | Hot water-induced seizure |
| HP:0007293 | Anterior sacral meningocele |
| HP:0020208 | Eating-induced seizure |
| HP:0007291 | Posterior fossa cyst |
| HP:0007286 | Horizontal jerk nystagmus |
| HP:0007285 | Facial palsy secondary to cranial hyperostosis |
| HP:0020202 | Abnormal Z disc morphology |
| HP:0020201 | Abnormal sarcomere morphology |
| HP:0007289 | Limb fasciculations |
| HP:0020200 | Increased circulating 18-hydroxycortisone level |
| HP:0020198 | Abnormal circulating 18-hydroxycorticosterone level |
| http://purl.obolibrary.org/obo/UBERON_0011249 | appendicular skeletal system |
| http://purl.obolibrary.org/obo/CHEBI_22676 | auxin |
| http://purl.obolibrary.org/obo/CHEBI_37848 | plant hormone |
| http://purl.obolibrary.org/obo/CHEBI_26155 | plant growth regulator |
| http://purl.obolibrary.org/obo/CHEBI_39317 | growth regulator |
| http://purl.obolibrary.org/obo/GO_0000821 | regulation of arginine metabolic process |
| http://purl.obolibrary.org/obo/GO_0000820 | regulation of glutamine family amino acid metabolic process |
| HP:0007295 | Chaotic rapid conjugate ocular movements |
| HP:0007299 | Dysfunction of lateral corticospinal tracts |
| HP:0011441 | Abnormality of the medulla oblongata |
| http://purl.obolibrary.org/obo/UBERON_0001869 | cerebral hemisphere |
| http://purl.obolibrary.org/obo/UBERON_0001868 | skin of chest |
| HP:0032242 | Cervical intraepithelial neoplasia |
| HP:0032240 | Elevated circulating E selectin level |
| HP:0032247 | Persistent CMV viremia |
| HP:0010871 | Sensory ataxia |
| HP:0010831 | Impaired proprioception |
| HP:0010873 | Cervical spinal cord atrophy |
| HP:0006827 | Atrophy of the spinal cord |
| HP:0010874 | Tendon xanthomatosis |
| HP:0000991 | Xanthomatosis |
| HP:0032244 | Decreased serum thromboxane B2 |
| http://purl.obolibrary.org/obo/UBERON_0001862 | vestibular labyrinth |
| HP:0009890 | High anterior hairline |
| http://purl.obolibrary.org/obo/UBERON_0001867 | cartilage of external ear |
| http://purl.obolibrary.org/obo/UBERON_0001866 | sebum |
| HP:0007221 | Progressive truncal ataxia |
| HP:0002078 | Truncal ataxia |
| HP:0009882 | Short distal phalanx of finger |
| HP:0009883 | Duplication of the distal phalanx of hand |
| HP:0007220 | Demyelinating motor neuropathy |
| HP:0007178 | Motor polyneuropathy |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0009880 | Broad distal phalanges of all fingers |
| HP:0009836 | Broad distal phalanx of finger |
| HP:0009768 | Broad phalanges of the hand |
| HP:0001500 | Broad finger |
| HP:0006009 | Broad phalanx |
| HP:0009881 | Aplasia of the distal phalanges of the hand |
| HP:0009802 | Aplasia of the phalanges of the hand |
| HP:0009823 | Aplasia involving bones of the upper limbs |
| HP:0009825 | Aplasia involving bones of the extremities |
| HP:0009380 | Aplasia of the fingers |
| HP:0009886 | Trichorrhexis nodosa |
| HP:0009884 | Tapered distal phalanges of finger |
| HP:0006192 | Tapered phalanx of finger |
| HP:0007229 | Intracerebral periventricular calcifications |
| HP:0010875 | Chaddock reflex |
| HP:0009888 | Abnormality of secondary sexual hair |
| HP:0007227 | Macrogyria |
| HP:0010877 | Monocular strabismus |
| HP:0000486 | Strabismus |
| HP:0032249 | Coccidioidomycosis |
| HP:0009889 | Localized hirsutism |
| HP:0001007 | Hirsutism |
| HP:0010878 | Fetal cystic hygroma |
| HP:0032248 | Persistent viremia |
| HP:0032169 | Severe infection |
| HP:0020071 | Viremia |
| HP:0031863 | Bloodstream infectious agent |
| HP:0010879 | Postnatal cystic hygroma |
| HP:0000476 | Cystic hygroma |
| HP:0032232 | Increased circulating creatine kinase MB isoform |
| HP:0032231 | Hypochromia |
| HP:0010880 | Increased nuchal translucency |
| HP:0032230 | Cytoplasmic antineutrophil antibody positivity |
| HP:0010882 | Pulmonary valve atresia |
| HP:0032235 | Anti-La/SSA antibody positivity |
| HP:0010883 | Aortic valve atresia |
| HP:0032234 | Increased circulating creatine kinase MM isoform |
| HP:0010884 | Acromelia |
| HP:0032233 | Increased circulating creatine kinase BB isoform |
| http://purl.obolibrary.org/obo/UBERON_0001872 | parietal lobe |
| http://purl.obolibrary.org/obo/UBERON_0001871 | temporal lobe |
| http://purl.obolibrary.org/obo/UBERON_0016526 | lobe of cerebral hemisphere |
| http://purl.obolibrary.org/obo/UBERON_0001874 | putamen |
| http://purl.obolibrary.org/obo/UBERON_0001873 | caudate nucleus |
| http://purl.obolibrary.org/obo/UBERON_0001875 | globus pallidus |
| http://purl.obolibrary.org/obo/UBERON_0009663 | telencephalic nucleus |
| HP:0009893 | Telangiectasia of the ear |
| HP:0007232 | Spinocerebellar tract disease in lower limbs |
| HP:0002503 | Spinocerebellar tract degeneration |
| HP:0009894 | Thickened ears |
| HP:0000400 | Macrotia |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0100538 | Abnormality of the supraorbital ridges |
| HP:0007230 | Decreased distal sensory nerve action potential |
| HP:0007078 | Decreased amplitude of sensory action potentials |
| HP:0009892 | Anotia |
| HP:0008772 | Aplasia/Hypoplasia of the external ear |
| HP:0008771 | Aplasia/Hypoplasia of the ear |
| HP:0009897 | Horizontal crus of helix |
| HP:0007236 | Recurrent subcortical infarcts |
| HP:0009898 | Underdeveloped crus of the helix |
| http://purl.obolibrary.org/obo/UBERON_0001870 | frontal cortex |
| http://purl.obolibrary.org/obo/UBERON_0016529 | cortex of cerebral lobe |
| http://purl.obolibrary.org/obo/UBERON_0005401 | cerebral hemisphere gray matter |
| http://purl.obolibrary.org/obo/UBERON_0011300 | gray matter of telencephalon |
| http://purl.obolibrary.org/obo/UBERON_0019264 | gray matter of forebrain |
| HP:0009896 | Abnormality of the antitragus |
| HP:0007233 | Clusters of axonal regeneration |
| HP:0010886 | Osteochondritis Dissecans |
| HP:0007239 | Congenital encephalopathy |
| HP:0001298 | Encephalopathy |
| HP:0032239 | Increased circulating band cell count |
| HP:0009899 | Prominent crus of helix |
| HP:0009895 | Abnormality of the crus of the helix |
| HP:0007238 | Nonarteriosclerotic cerebral calcification |
| HP:0032238 | Increased circulating metamyelocyte count |
| HP:0010888 | Morbus Koehler |
| HP:0100339 | Abnormality of the os naviculare pedis |
| HP:0032237 | Increased circulating myelocyte count |
| HP:0032236 | Increased circulating immature neutrophil count |
| HP:0010889 | Morbus Kienboeck |
| HP:0004248 | Abnormality of the lunate bone |
| HP:0032221 | Periportal emperipolesis |
| HP:0010890 | Morbus Osgood-Schlatter |
| HP:0032220 | Interface hepatitis |
| HP:0012115 | Hepatitis |
| HP:0010891 | Morbus Scheuermann |
| HP:0010892 | Abnormal circulating branched chain amino acid concentration |
| HP:0032225 | Perifollicular fibroma |
| HP:0010893 | Abnormal circulating phenylalanine concentration |
| http://purl.obolibrary.org/obo/GO_1901363 | heterocyclic compound binding |
| http://purl.obolibrary.org/obo/GO_1901362 | organic cyclic compound biosynthetic process |
| HP:0010895 | Abnormal circulating glycine concentration |
| HP:0010896 | Hypersarcosinemia |
| HP:0032222 | Serrated intestinal polyps |
| http://purl.obolibrary.org/obo/UBERON_0001885 | dentate gyrus of hippocampal formation |
| http://purl.obolibrary.org/obo/CHEBI_20067 | 3-hydroxybutyric acid |
| http://purl.obolibrary.org/obo/CHEBI_78954 | (omega-1)-hydroxy fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_35969 | 3-hydroxy monocarboxylic acid |
| http://purl.obolibrary.org/obo/UBERON_0001884 | phrenic nerve |
| http://purl.obolibrary.org/obo/UBERON_0001887 | internal capsule of telencephalon |
| http://purl.obolibrary.org/obo/UBERON_0002437 | cerebral hemisphere white matter |
| http://purl.obolibrary.org/obo/UBERON_0011299 | white matter of telencephalon |
| HP:0007250 | Recurrent external ophthalmoplegia |
| http://purl.obolibrary.org/obo/UBERON_0001886 | choroid plexus |
| http://purl.obolibrary.org/obo/UBERON_0036303 | vasculature of central nervous system |
| http://purl.obolibrary.org/obo/UBERON_0036302 | vasculature of central nervous system plus retina |
| http://purl.obolibrary.org/obo/UBERON_0001889 | trunk of phrenic nerve |
| http://purl.obolibrary.org/obo/UBERON_0005476 | spinal nerve trunk |
| HP:0007240 | Progressive gait ataxia |
| HP:0002066 | Gait ataxia |
| HP:0001251 | Ataxia |
| http://purl.obolibrary.org/obo/PR_Q00612 | glucose-6-phosphate 1-dehydrogenase X (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0011202 | urachus epithelium |
| HP:0032229 | Perinuclear antineutrophil antibody positivity |
| HP:0010897 | Hypersarcosinuria |
| http://purl.obolibrary.org/obo/UBERON_0011201 | muscle layer of small intestine |
| HP:0032228 | Trichodiscoma |
| HP:0010898 | Abnormal circulating sarcosine concentration |
| HP:0010894 | Abnormal circulating serine family amino acid concentration |
| http://purl.obolibrary.org/obo/UBERON_0011200 | sacrococcygeal symphysis |
| HP:0007249 | Decreased number of small peripheral myelinated nerve fibers |
| HP:0032227 | Sebaceous hyperplasia |
| http://purl.obolibrary.org/obo/UBERON_0011203 | urachus mesenchyme |
| HP:0032210 | Decreased circulating free T3 |
| HP:0032209 | Abnormal circulating free T3 concentration |
| HP:0031508 | Abnormal thyroid hormone level |
| HP:0002926 | Abnormality of thyroid physiology |
| HP:0032214 | Increased urinary transitional epithelial cell count |
| HP:0032213 | Increased urinary renal tubular epithelial cell count |
| HP:0032212 | Increased urinary squamous epithelial cell count |
| HP:0032211 | Increased urinary epithelial cell count |
| http://purl.obolibrary.org/obo/UBERON_0001894 | diencephalon |
| http://purl.obolibrary.org/obo/UBERON_0001893 | telencephalon |
| http://purl.obolibrary.org/obo/UBERON_0001896 | medulla oblongata |
| http://purl.obolibrary.org/obo/UBERON_0001895 | metencephalon |
| http://purl.obolibrary.org/obo/UBERON_0004733 | segmental subdivision of hindbrain |
| http://purl.obolibrary.org/obo/UBERON_0001898 | hypothalamus |
| http://purl.obolibrary.org/obo/UBERON_0001897 | dorsal plus ventral thalamus |
| HP:0007260 | Type II lissencephaly |
| http://purl.obolibrary.org/obo/UBERON_0001899 | epithalamus |
| http://purl.obolibrary.org/obo/UBERON_0001890 | forebrain |
| HP:0007258 | Severe demyelination of the white matter |
| HP:0007305 | CNS demyelination |
| http://purl.obolibrary.org/obo/UBERON_0001892 | rhombomere |
| http://purl.obolibrary.org/obo/UBERON_0004731 | neuromere |
| http://purl.obolibrary.org/obo/UBERON_0004732 | segmental subdivision of nervous system |
| http://purl.obolibrary.org/obo/UBERON_0001891 | midbrain |
| HP:0032218 | Decreased proportion of CD4-positive T cells |
| HP:0032217 | Indurated nodule |
| HP:0032216 | Lymphocytic infiltration of the colorectal mucosa |
| HP:0025090 | Abnormal large intestinal mucosa morphology |
| HP:0032215 | Disseminated cutaneous warts |
| HP:0032219 | Increased proportion of CD4-positive T cells |
| HP:0031392 | Abnormal proportion of CD4-positive T cells |
| HP:0032287 | Ultra-low vision with no light perception |
| http://purl.obolibrary.org/obo/UBERON_0001824 | mucosa of larynx |
| HP:0032286 | Ultra-low vision with retained light perception |
| http://purl.obolibrary.org/obo/UBERON_0001827 | secretion of lacrimal gland |
| HP:0032285 | Ultra-low vision with retained light projection |
| HP:0032284 | Ultra-low vision with retained motion projection |
| HP:0032123 | Ultra-low vision |
| http://purl.obolibrary.org/obo/UBERON_0001826 | nasal cavity mucosa |
| http://purl.obolibrary.org/obo/UBERON_0000379 | tracheal mucosa |
| http://purl.obolibrary.org/obo/UBERON_0004785 | respiratory system mucosa |
| http://purl.obolibrary.org/obo/UBERON_0001828 | gingiva |
| HP:0032289 | Oligoclonal elevation of circulating IgG |
| HP:0032288 | Polyclonal elevation of circulating IgG |
| HP:0032283 | Disseminated nontuberculous mycobacterial infection |
| HP:0032282 | Contact dermatitis |
| HP:0032281 | Abnormal base excess |
| http://purl.obolibrary.org/obo/UBERON_0001836 | saliva |
| HP:0032276 | Prominent subcalcaneal fat pad |
| http://purl.obolibrary.org/obo/UBERON_0001835 | lower lip |
| HP:0032275 | Recurrent shingles |
| HP:0032274 | Increased CSF N-Acetylaspartic acid concentration |
| http://purl.obolibrary.org/obo/UBERON_0001838 | sublingual duct |
| HP:0032273 | Increased circulating N-Acetylaspartic acid concentration |
| http://purl.obolibrary.org/obo/UBERON_0001839 | bony labyrinth |
| HP:0032277 | Lozenge-shaped umbilicus |
| http://purl.obolibrary.org/obo/UBERON_0001832 | sublingual gland |
| HP:0032272 | Elevated urinary N-acetylaspartic acid level |
| http://purl.obolibrary.org/obo/UBERON_0001831 | parotid gland |
| http://purl.obolibrary.org/obo/UBERON_0012102 | buccal salivary gland |
| http://purl.obolibrary.org/obo/UBERON_0000409 | serous gland |
| HP:0032271 | Extrapulmonary tuberculosis |
| http://purl.obolibrary.org/obo/UBERON_0001834 | upper lip |
| HP:0032270 | Optic nerve tram-track sign |
| http://purl.obolibrary.org/obo/UBERON_0001833 | lip |
| http://purl.obolibrary.org/obo/UBERON_0001847 | lobule of pinna |
| HP:0032264 | Anti-NMDA receptor antibody positivity |
| http://purl.obolibrary.org/obo/UBERON_0001846 | internal ear |
| http://purl.obolibrary.org/obo/UBERON_0001849 | membranous labyrinth |
| http://purl.obolibrary.org/obo/UBERON_0001848 | auricular cartilage |
| HP:0032262 | Pulmonary tuberculosis |
| HP:0032269 | Lemon sign |
| HP:0032268 | Dural tail sign |
| HP:0032267 | Empty delta sign |
| HP:0010303 | Abnormal spinal meningeal morphology |
| HP:0032266 | CSF anti-NMDA receptor antibody positivity |
| HP:0032265 | CSF autoimmune antibody positivity |
| http://purl.obolibrary.org/obo/UBERON_0001840 | semicircular canal |
| HP:0032261 | Nontuberculous mycobacterial pulmonary infection |
| http://purl.obolibrary.org/obo/UBERON_0001844 | cochlea |
| http://purl.obolibrary.org/obo/NBO_0000317 | vestibular behavior |
| http://purl.obolibrary.org/obo/NBO_0000327 | somatic sensation related behavior |
| HP:0032254 | Increased circulating copper concentration |
| HP:0010836 | Abnormal circulating copper concentration |
| HP:0032253 | Eosinophilic granuloma |
| HP:0032252 | Granuloma |
| HP:0032258 | Pulmonary histoplasmosis |
| HP:0032257 | Disseminated histoplasmosis |
| HP:0032256 | Histoplasmosis |
| HP:0032255 | Opportunistic fungal infection |
| http://purl.obolibrary.org/obo/UBERON_0001850 | lacrimal drainage system |
| HP:0032250 | Acinetobacter infection |
| http://purl.obolibrary.org/obo/UBERON_0001855 | cochlear duct of membranous labyrinth |
| http://purl.obolibrary.org/obo/NBO_0000304 | memory loss behavior |
| http://purl.obolibrary.org/obo/NBO_0000170 | memory behavior |
| http://purl.obolibrary.org/obo/NBO_0000006 | learning and/or memory behavior |
| HP:0032259 | Chronic tinea infection |
| HP:0031035 | Chronic infection |
| http://www.informatics.jax.org/marker/MGI:87951 | Afp (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0001803 | epithelium of lens |
| http://purl.obolibrary.org/obo/UBERON_0001802 | posterior segment of eyeball |
| http://purl.obolibrary.org/obo/UBERON_0001804 | capsule of lens |
| http://purl.obolibrary.org/obo/UBERON_0001806 | sympathetic ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001809 | enteric ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001801 | anterior segment of eyeball |
| HP:0032298 | Increased circulating IgG1 level |
| http://purl.obolibrary.org/obo/UBERON_0001814 | brachial nerve plexus |
| HP:0032297 | Increased circulating IgG3 level |
| http://purl.obolibrary.org/obo/UBERON_0001816 | autonomic nerve plexus |
| http://purl.obolibrary.org/obo/UBERON_0001815 | lumbosacral nerve plexus |
| HP:0032295 | Monoclonal elevation of IgG lambda chain |
| http://purl.obolibrary.org/obo/UBERON_0001818 | tarsal gland |
| http://purl.obolibrary.org/obo/UBERON_0001817 | lacrimal gland |
| http://purl.obolibrary.org/obo/UBERON_0001819 | palpebral fissure |
| HP:0032299 | Increased circulating IgG2 level |
| HP:0032294 | Monoclonal elevation of IgG kappa chain |
| HP:0032293 | Monoclonal elevation of IgG heavy chain |
| http://purl.obolibrary.org/obo/UBERON_0001812 | palpebral conjunctiva |
| http://purl.obolibrary.org/obo/UBERON_0010305 | subdivision of conjunctiva |
| HP:0032292 | Monoclonal elevation of IgG light chain |
| http://purl.obolibrary.org/obo/UBERON_0001811 | conjunctiva |
| HP:0032291 | Monoclonal elevation of intact IgG |
| HP:0032290 | Monoclonal elevation of IgG |
| http://purl.obolibrary.org/obo/NBO_0000259 | psychotic disorder |
| http://purl.obolibrary.org/obo/NBO_0000258 | bipolar disorder |
| http://purl.obolibrary.org/obo/GO_0010186 | positive regulation of cellular defense response |
| http://purl.obolibrary.org/obo/GO_0031349 | positive regulation of defense response |
| http://purl.obolibrary.org/obo/GO_0010185 | regulation of cellular defense response |
| http://purl.obolibrary.org/obo/GO_0031347 | regulation of defense response |
| http://purl.obolibrary.org/obo/GO_0061727 | methylglyoxal catabolic process to lactate |
| http://purl.obolibrary.org/obo/GO_0051596 | methylglyoxal catabolic process |
| http://purl.obolibrary.org/obo/NBO_0000248 | obsessive-compulsive disorder |
| http://purl.obolibrary.org/obo/NBO_0000246 | phobia |
| http://purl.obolibrary.org/obo/NBO_0000244 | pathological anxiety |
| http://purl.obolibrary.org/obo/CHEBI_83563 | long-chain alkane |
| http://purl.obolibrary.org/obo/CHEBI_18310 | alkane |
| http://purl.obolibrary.org/obo/CHEBI_33653 | aliphatic compound |
| http://purl.obolibrary.org/obo/UBERON_0035198 | superficial lymphatic vessel |
| http://purl.obolibrary.org/obo/GO_0048732 | gland development |
| http://purl.obolibrary.org/obo/GO_0048736 | appendage development |
| http://purl.obolibrary.org/obo/GO_0048738 | cardiac muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0014706 | striated muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0060537 | muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0048729 | tissue morphogenesis |
| http://purl.obolibrary.org/obo/NBO_0000268 | dementia |
| http://purl.obolibrary.org/obo/NBO_0000265 | personality disorder |
| http://www.informatics.jax.org/marker/MGI:99782 | Nt5e (mouse) |
| http://purl.obolibrary.org/obo/GO_0048714 | positive regulation of oligodendrocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045687 | positive regulation of glial cell differentiation |
| http://purl.obolibrary.org/obo/GO_0014015 | positive regulation of gliogenesis |
| http://purl.obolibrary.org/obo/GO_0050769 | positive regulation of neurogenesis |
| http://purl.obolibrary.org/obo/GO_0051962 | positive regulation of nervous system development |
| http://purl.obolibrary.org/obo/GO_0048715 | negative regulation of oligodendrocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045686 | negative regulation of glial cell differentiation |
| http://purl.obolibrary.org/obo/GO_0014014 | negative regulation of gliogenesis |
| http://purl.obolibrary.org/obo/GO_0050768 | negative regulation of neurogenesis |
| http://purl.obolibrary.org/obo/GO_0051961 | negative regulation of nervous system development |
| http://purl.obolibrary.org/obo/GO_0048713 | regulation of oligodendrocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0045685 | regulation of glial cell differentiation |
| http://purl.obolibrary.org/obo/GO_0014013 | regulation of gliogenesis |
| http://purl.obolibrary.org/obo/GO_0050767 | regulation of neurogenesis |
| http://purl.obolibrary.org/obo/GO_0051960 | regulation of nervous system development |
| http://purl.obolibrary.org/obo/GO_0048709 | oligodendrocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0010001 | glial cell differentiation |
| http://purl.obolibrary.org/obo/GO_0048705 | skeletal system morphogenesis |
| http://purl.obolibrary.org/obo/NBO_0000233 | motivation behavior |
| http://purl.obolibrary.org/obo/UBERON_0035132 | auditory ossicle pre-cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0035131 | auditory ossicle cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0035133 | longitudinal arch of pes |
| http://purl.obolibrary.org/obo/GO_0046185 | aldehyde catabolic process |
| http://purl.obolibrary.org/obo/GO_0097722 | sperm motility |
| HP:0007421 | Telangiectases of the cheeks |
| HP:0007420 | Spontaneous hematomas |
| HP:0001933 | Subcutaneous hemorrhage |
| HP:0007427 | Reticulated skin pigmentation |
| http://purl.obolibrary.org/obo/UBERON_0035139 | anterior nasal spine of maxilla |
| http://purl.obolibrary.org/obo/UBERON_0011189 | lamina propria of large intestine |
| HP:0007425 | Hyperextensible skin of face |
| http://purl.obolibrary.org/obo/PR_P16872 | interleukin-7 receptor subunit alpha (mouse) |
| HP:0007429 | Few cafe-au-lait spots |
| HP:0007428 | Telangiectasia of the oral mucosa |
| HP:0000228 | Oral cavity telangiectasia |
| HP:0100579 | Mucosal telangiectasiae |
| http://purl.obolibrary.org/obo/UBERON_0011198 | muscle layer of large intestine |
| http://purl.obolibrary.org/obo/UBERON_0012367 | muscle layer of intestine |
| http://purl.obolibrary.org/obo/UBERON_0018261 | muscular coat of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0006660 | muscular coat |
| http://purl.obolibrary.org/obo/UBERON_0011197 | parathyroid epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006799 | glandular epithelium |
| http://purl.obolibrary.org/obo/GO_0009101 | glycoprotein biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0009100 | glycoprotein metabolic process |
| HP:0007430 | Generalized edema |
| HP:0007434 | Plaque-like facial hemangioma |
| HP:0007432 | Intermittent generalized erythematous papular rash |
| HP:0007438 | Mottled pigmentation of the trunk and proximal extremities |
| HP:0007437 | Multiple cutaneous leiomyomas |
| http://purl.obolibrary.org/obo/GO_0097712 | vesicle targeting, trans-Golgi to periciliary membrane compartment |
| http://purl.obolibrary.org/obo/GO_0048199 | vesicle targeting, to, from or within Golgi |
| http://purl.obolibrary.org/obo/GO_0006903 | vesicle targeting |
| HP:0007436 | Hair-nail ectodermal dysplasia |
| HP:0007435 | Diffuse palmoplantar keratoderma |
| http://purl.obolibrary.org/obo/UBERON_0035127 | suture of hard palate |
| HP:0007439 | Generalized keratosis follicularis |
| http://purl.obolibrary.org/obo/UBERON_0035110 | lateral plantar nerve |
| http://purl.obolibrary.org/obo/UBERON_0035111 | medial plantar nerve |
| HP:0007443 | Partial albinism |
| http://purl.obolibrary.org/obo/UBERON_0035118 | material entity in digestive tract |
| HP:0007449 | Confetti-like hypopigmented macules |
| http://purl.obolibrary.org/obo/UBERON_0035117 | diastema between lower central incisors |
| HP:0007448 | Hyperkeratosis over edematous areas |
| HP:0007447 | Diffuse palmoplantar hyperkeratosis |
| HP:0007446 | Palmoplantar blistering |
| http://purl.obolibrary.org/obo/UBERON_0035116 | diastema between upper central incisors |
| http://purl.obolibrary.org/obo/UBERON_0035115 | diastema between central incisors |
| http://purl.obolibrary.org/obo/UBERON_0035119 | diastema between incisors |
| http://purl.obolibrary.org/obo/UBERON_0012111 | diastema |
| http://purl.obolibrary.org/obo/GO_0000790 | nuclear chromatin |
| http://purl.obolibrary.org/obo/GO_0000791 | euchromatin |
| http://purl.obolibrary.org/obo/GO_0000792 | heterochromatin |
| HP:0007452 | Midface capillary hemangioma |
| HP:0007451 | Ipsilateral lack of facial sweating |
| http://purl.obolibrary.org/obo/GO_0000789 | cytoplasmic chromatin |
| HP:0007450 | Increased groin pigmentation with raindrop depigmentation |
| HP:0007456 | Progressive reticulate hyperpigmentation |
| HP:0007455 | Adermatoglyphia |
| http://purl.obolibrary.org/obo/GO_0000785 | chromatin |
| HP:0007453 | Flexural lichenification |
| HP:0100725 | Lichenification |
| http://purl.obolibrary.org/obo/GO_0046148 | pigment biosynthetic process |
| http://purl.obolibrary.org/obo/UBERON_0035106 | raphe of perineum |
| HP:0007459 | Generalized anhidrosis |
| http://purl.obolibrary.org/obo/GO_0097734 | extracellular exosome biogenesis |
| http://purl.obolibrary.org/obo/UBERON_0035109 | plantar nerve |
| HP:0007458 | Focal hyperextensible skin |
| HP:0000974 | Hyperextensible skin |
| HP:0007457 | Prominent veins on trunk |
| http://purl.obolibrary.org/obo/UBERON_0035102 | transverse process of caudal vertebra |
| http://purl.obolibrary.org/obo/UBERON_0035105 | sac of scrotum |
| http://purl.obolibrary.org/obo/GO_0009150 | purine ribonucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_0006163 | purine nucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_0009259 | ribonucleotide metabolic process |
| http://purl.obolibrary.org/obo/GO_0009117 | nucleotide metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0011143 | upper urinary tract |
| HP:0032401 | Aspartic aciduria |
| http://purl.obolibrary.org/obo/UBERON_0011142 | axial ossicle |
| HP:0032400 | Dysgyria with thickened cortex |
| http://purl.obolibrary.org/obo/UBERON_0035174 | right ear |
| http://purl.obolibrary.org/obo/UBERON_0011141 | appendicular ossicle |
| http://purl.obolibrary.org/obo/PR_O43490 | prominin-1 (human) |
| http://purl.obolibrary.org/obo/PR_000001786 | prominin-1 |
| http://purl.obolibrary.org/obo/PR_000001785 | prominin |
| http://purl.obolibrary.org/obo/GO_0046137 | negative regulation of vitamin metabolic process |
| HP:0032405 | Increased urinary phosphoserine level |
| http://purl.obolibrary.org/obo/GO_0048799 | animal organ maturation |
| http://purl.obolibrary.org/obo/GO_0046136 | positive regulation of vitamin metabolic process |
| HP:0032404 | Testicular mass |
| HP:0032403 | Asparaginuria |
| http://purl.obolibrary.org/obo/UBERON_0011144 | adductor muscle of hip |
| http://purl.obolibrary.org/obo/UBERON_0011145 | adductor muscle |
| HP:0032408 | Breast mass |
| HP:0032407 | Bilateral perisylvian polymicrogyria |
| HP:0032406 | Unilateral perisylvian polymicrogyria |
| HP:0012650 | Perisylvian polymicrogyria |
| http://purl.obolibrary.org/obo/UBERON_0035165 | posterior surface of prostate |
| http://purl.obolibrary.org/obo/UBERON_0035480 | surface of prostate |
| http://purl.obolibrary.org/obo/UBERON_0011152 | dorsal hyoid arch skeleton |
| http://purl.obolibrary.org/obo/GO_1901534 | positive regulation of hematopoietic progenitor cell differentiation |
| http://purl.obolibrary.org/obo/GO_1903708 | positive regulation of hemopoiesis |
| http://purl.obolibrary.org/obo/GO_1901533 | negative regulation of hematopoietic progenitor cell differentiation |
| http://purl.obolibrary.org/obo/GO_1901532 | regulation of hematopoietic progenitor cell differentiation |
| http://purl.obolibrary.org/obo/GO_1903707 | negative regulation of hemopoiesis |
| http://purl.obolibrary.org/obo/GO_1903706 | regulation of hemopoiesis |
| http://purl.obolibrary.org/obo/GO_0034101 | erythrocyte homeostasis |
| http://purl.obolibrary.org/obo/GO_0002262 | myeloid cell homeostasis |
| http://purl.obolibrary.org/obo/GO_0048872 | homeostasis of number of cells |
| http://purl.obolibrary.org/obo/UBERON_0011156 | facial skeleton |
| http://purl.obolibrary.org/obo/NBO_0000280 | attraction-related behavior |
| http://purl.obolibrary.org/obo/UBERON_0011160 | nasal suture |
| http://purl.obolibrary.org/obo/UBERON_0009199 | facial suture |
| http://purl.obolibrary.org/obo/GO_0009179 | purine ribonucleoside diphosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0009185 | ribonucleoside diphosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0009135 | purine nucleoside diphosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0009132 | nucleoside diphosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0006753 | nucleoside phosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0034109 | homotypic cell-cell adhesion |
| HP:0007401 | Macular atrophy |
| HP:0000608 | Macular degeneration |
| http://purl.obolibrary.org/obo/GO_0034111 | negative regulation of homotypic cell-cell adhesion |
| HP:0007404 | Nonepidermolytic palmoplantar keratoderma |
| HP:0007403 | Hypertrophy of skin of soles |
| HP:0007402 | Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines |
| HP:0007408 | Tegumentary leishmaniasis susceptibility |
| HP:0007407 | Excessive skin wrinkling on dorsum of hands and fingers |
| http://purl.obolibrary.org/obo/UBERON_0035159 | entire surface of organism |
| http://purl.obolibrary.org/obo/UBERON_0006984 | anatomical surface |
| http://purl.obolibrary.org/obo/UBERON_0010199 | bona-fide anatomical boundary |
| HP:0007406 | Hyperpigmentation of eyelids |
| http://purl.obolibrary.org/obo/GO_0048770 | pigment granule |
| http://purl.obolibrary.org/obo/GO_0046110 | xanthine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006144 | purine nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0072521 | purine-containing compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0009112 | nucleobase metabolic process |
| http://purl.obolibrary.org/obo/GO_0055086 | nucleobase-containing small molecule metabolic process |
| HP:0007412 | Macular hyperpigmented dermopathy |
| HP:0007411 | Hypoplastic-absent sebaceous glands |
| HP:0007410 | Palmoplantar hyperhidrosis |
| HP:0006089 | Palmar hyperhidrosis |
| HP:0000975 | Hyperhidrosis |
| HP:0007414 | Neonatal wrinkled skin of hands and feet |
| HP:0007413 | Nevus flammeus of the forehead |
| HP:0007417 | Discoid lupus rash |
| HP:0032320 | Affected |
| http://purl.obolibrary.org/obo/UBERON_0013760 | external cervical os |
| HP:0032324 | Non-periodic recurrent fever |
| http://purl.obolibrary.org/obo/UBERON_0013761 | cervical cavity |
| HP:0032323 | Periodic fever |
| HP:0001954 | Recurrent fever |
| HP:0032322 | Healthy |
| HP:0032321 | Unaffected |
| http://purl.obolibrary.org/obo/UBERON_0001783 | optic disc |
| http://purl.obolibrary.org/obo/UBERON_0001786 | fovea centralis |
| http://purl.obolibrary.org/obo/UBERON_0001788 | outer limiting layer of retina |
| http://purl.obolibrary.org/obo/UBERON_0001787 | photoreceptor layer of retina |
| http://www.informatics.jax.org/marker/MGI:1922725 | Oplah (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0001789 | outer nuclear layer of retina |
| HP:0007390 | Hyperkeratosis with erythema |
| HP:0007384 | Aberrant melanosome maturation |
| http://purl.obolibrary.org/obo/UBERON_0001782 | pigmented layer of retina |
| http://purl.obolibrary.org/obo/UBERON_0000957 | lamina |
| HP:0032328 | Temporomandibular joint adhesion |
| HP:0010754 | Abnormality of the temporomandibular joint |
| HP:0032327 | Interhemispheric cyst |
| HP:0012703 | Abnormal subarachnoid space morphology |
| HP:0032326 | Methicillin-resistant Staphylococcus aureus infection |
| HP:0032260 | Opportunistic bacterial infection |
| http://purl.obolibrary.org/obo/UBERON_0013769 | uterine lumen |
| http://purl.obolibrary.org/obo/UBERON_0002558 | organ cavity |
| http://purl.obolibrary.org/obo/UBERON_0013766 | epicanthal fold |
| http://purl.obolibrary.org/obo/UBERON_0011104 | epiphysis of fifth metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0013767 | frontal process of maxilla |
| HP:0032329 | Increased urinary 11-deoxycortisol level |
| http://purl.obolibrary.org/obo/UBERON_0011110 | humeroulnar joint |
| http://purl.obolibrary.org/obo/UBERON_0013771 | line connecting laterally paired nipples |
| HP:0032313 | Frontotemporal hypertrichosis |
| HP:0002219 | Facial hypertrichosis |
| HP:0000998 | Hypertrichosis |
| http://purl.obolibrary.org/obo/UBERON_0013772 | left nipple |
| HP:0032310 | Granulocytosis |
| http://purl.obolibrary.org/obo/UBERON_0001795 | inner plexiform layer of retina |
| http://purl.obolibrary.org/obo/UBERON_0001794 | inner limiting layer of retina |
| http://purl.obolibrary.org/obo/UBERON_0007619 | limiting membrane of retina |
| http://purl.obolibrary.org/obo/UBERON_0001797 | vitreous humor |
| http://purl.obolibrary.org/obo/UBERON_0001796 | aqueous humor of eyeball |
| http://purl.obolibrary.org/obo/UBERON_0006312 | ocular refractive media |
| http://purl.obolibrary.org/obo/UBERON_0001799 | vitreous chamber of eyeball |
| http://purl.obolibrary.org/obo/UBERON_0001798 | vitreous body |
| HP:0007397 | Axillary apocrine gland hypoplasia |
| HP:0007396 | Early cutaneous photosensitivity |
| HP:0007395 | Postnatal-onset ichthyosiform erythroderma |
| http://purl.obolibrary.org/obo/UBERON_0011119 | carpometacarpal joint |
| http://purl.obolibrary.org/obo/UBERON_0001791 | inner nuclear layer of retina |
| http://purl.obolibrary.org/obo/UBERON_0001790 | outer plexiform layer of retina |
| http://purl.obolibrary.org/obo/UBERON_0001793 | nerve fiber layer of retina |
| http://purl.obolibrary.org/obo/UBERON_0001792 | ganglionic layer of retina |
| HP:0007398 | Asymmetric, linear skin defects |
| HP:0032317 | Family history of cancer |
| http://purl.obolibrary.org/obo/UBERON_0013773 | right nipple |
| http://purl.obolibrary.org/obo/UBERON_0002030 | nipple |
| http://purl.obolibrary.org/obo/UBERON_0011112 | tibiofibular joint |
| http://purl.obolibrary.org/obo/UBERON_0002210 | syndesmosis |
| HP:0032315 | Areolar fullness |
| http://purl.obolibrary.org/obo/UBERON_0011111 | humeroradial joint |
| http://purl.obolibrary.org/obo/UBERON_0013774 | diaphysis of metatarsal bone |
| HP:0032314 | Abnormal areolar morphology |
| http://purl.obolibrary.org/obo/UBERON_0011118 | tarsometatarsal joint |
| http://purl.obolibrary.org/obo/UBERON_0013777 | skin of palm of manus |
| HP:0032319 | Health status |
| http://purl.obolibrary.org/obo/UBERON_0013778 | skin of sole of pes |
| http://purl.obolibrary.org/obo/UBERON_0013776 | skin of palmar/plantar part of autopod |
| HP:0032318 | Family history of heart disease |
| HP:0032316 | Family history |
| http://purl.obolibrary.org/obo/UBERON_0011121 | cricothyroid joint |
| HP:0032302 | Kappa Bence Jones proteinuria |
| HP:0032301 | Genital warts |
| HP:0200043 | Verrucae |
| HP:0032300 | Increased circulating IgG4 level |
| HP:0032296 | Increased circulating IgG subclass |
| HP:0032306 | Increased mannose-binding protein level |
| HP:0032305 | Decreased mannose-binding protein level |
| HP:0032304 | Abnormal mannose-binding protein level |
| http://purl.obolibrary.org/obo/UBERON_0011122 | cricoarytenoid joint |
| http://purl.obolibrary.org/obo/UBERON_0011120 | laryngeal joint |
| HP:0032303 | Lambda Bence Jones proteinuria |
| HP:0032308 | Increased circulating procalcitonin level |
| http://purl.obolibrary.org/obo/UBERON_0011132 | intercarpal joint |
| http://purl.obolibrary.org/obo/UBERON_0011131 | intermetacarpal joint |
| http://purl.obolibrary.org/obo/UBERON_0011130 | temporomandibular joint primordium |
| http://purl.obolibrary.org/obo/CHEBI_22558 | anhydro sugar |
| http://purl.obolibrary.org/obo/CHEBI_35381 | monosaccharide |
| http://purl.obolibrary.org/obo/UBERON_0011136 | ligament of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0011133 | intermetatarsal joint |
| http://purl.obolibrary.org/obo/UBERON_0011138 | postcranial axial skeletal system |
| http://purl.obolibrary.org/obo/UBERON_0011137 | axial skeletal system |
| http://purl.obolibrary.org/obo/UBERON_0001748 | capsule of parathyroid gland |
| http://purl.obolibrary.org/obo/UBERON_0001747 | parenchyma of thyroid gland |
| HP:0032363 | Decreased circulating corticosterone level |
| HP:0032362 | Increased circulating corticosterone level |
| HP:0012112 | Abnormal circulating corticosterone level |
| http://purl.obolibrary.org/obo/UBERON_0001749 | parenchyma of parathyroid gland |
| HP:0032361 | Decreased post-bronchodilator forced expiratory flow 25-75% |
| HP:0010992 | Stress urinary incontinence |
| HP:0000020 | Urinary incontinence |
| HP:0032367 | Abnormal growth hormone level |
| HP:0032366 | Positive direct antiglobulin test |
| HP:0032365 | Exacerbated by aspirin ingestion |
| http://purl.obolibrary.org/obo/UBERON_0001740 | arytenoid cartilage |
| http://purl.obolibrary.org/obo/UBERON_0001742 | epiglottic cartilage |
| http://purl.obolibrary.org/obo/CHEBI_22587 | antiviral agent |
| http://purl.obolibrary.org/obo/CHEBI_33281 | antimicrobial agent |
| HP:0032360 | Decreased pre-bronchodilator forced expiratory flow 25-75% |
| http://purl.obolibrary.org/obo/UBERON_0001746 | capsule of thyroid gland |
| http://purl.obolibrary.org/obo/UBERON_0001745 | secondary nodular lymphoid tissue |
| HP:0007341 | Diffuse swelling of cerebral white matter |
| HP:0007340 | Lower limb muscle weakness |
| http://purl.obolibrary.org/obo/UBERON_0013727 | notochordal fluid |
| HP:0007346 | Subcortical white matter calcifications |
| HP:0007344 | Atrophy/Degeneration involving the spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0013720 | dartos muscle of labia majora |
| http://purl.obolibrary.org/obo/UBERON_0013721 | deep inguinal ring |
| http://purl.obolibrary.org/obo/UBERON_0006674 | inguinal ring |
| HP:0010997 | Chromosomal breakage induced by ionizing radiation |
| HP:0007348 | Hypoplasia of the pyramidal tract |
| HP:0010998 | Increased susceptibility to spontaneous sister chromatid exchange |
| HP:0010999 | Aplasia of the optic tract |
| HP:0011000 | Aplasia/Hypoplasia of the optic tract |
| HP:0032369 | Alkalemia |
| http://purl.obolibrary.org/obo/UBERON_0001759 | vagus nerve |
| HP:0032353 | Leucinuria |
| http://purl.obolibrary.org/obo/UBERON_0001758 | periodontium |
| HP:0032352 | Methioninuria |
| HP:0032351 | Phenylalaninuria |
| HP:0032350 | Sulfocysteinuria |
| http://purl.obolibrary.org/obo/GO_1901495 | negative regulation of cysteine metabolic process |
| http://purl.obolibrary.org/obo/GO_0031336 | negative regulation of sulfur amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0051175 | negative regulation of sulfur metabolic process |
| http://purl.obolibrary.org/obo/GO_0045763 | negative regulation of cellular amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0033239 | negative regulation of cellular amine metabolic process |
| http://purl.obolibrary.org/obo/GO_0062014 | negative regulation of small molecule metabolic process |
| HP:0032357 | Decreased post-bronchodilator forced vital capacity |
| HP:0032356 | Decreased pre-bronchodilator forced vital capacity |
| HP:0032355 | Decreased peak expiratory flow |
| http://purl.obolibrary.org/obo/GO_1901496 | positive regulation of cysteine metabolic process |
| http://purl.obolibrary.org/obo/GO_0031337 | positive regulation of sulfur amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0051176 | positive regulation of sulfur metabolic process |
| http://purl.obolibrary.org/obo/GO_0045764 | positive regulation of cellular amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0033240 | positive regulation of cellular amine metabolic process |
| http://purl.obolibrary.org/obo/GO_1901494 | regulation of cysteine metabolic process |
| http://purl.obolibrary.org/obo/GO_0031335 | regulation of sulfur amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0042762 | regulation of sulfur metabolic process |
| http://purl.obolibrary.org/obo/GO_0006521 | regulation of cellular amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0033238 | regulation of cellular amine metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0001751 | dentine |
| http://purl.obolibrary.org/obo/UBERON_0001750 | lacrimal apparatus |
| http://purl.obolibrary.org/obo/UBERON_0001753 | cementum |
| http://purl.obolibrary.org/obo/UBERON_0001752 | enamel |
| http://purl.obolibrary.org/obo/UBERON_0010365 | odontoid tissue |
| http://purl.obolibrary.org/obo/UBERON_4000013 | mineralized skeletal tissue |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| http://purl.obolibrary.org/obo/UBERON_0001757 | pinna |
| http://purl.obolibrary.org/obo/UBERON_0001756 | middle ear |
| HP:0007352 | Cerebellar calcifications |
| HP:0007351 | Upper limb postural tremor |
| HP:0200085 | Limb tremor |
| HP:0002174 | Postural tremor |
| HP:0007350 | Hyperreflexia in upper limbs |
| HP:0001347 | Hyperreflexia |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0032359 | Decreased forced expiratory flow 25-75% |
| HP:0032358 | Decreased post-bronchodilator forced expiratory volume in one second |
| HP:0032342 | Reduced forced expiratory volume in one second |
| http://purl.obolibrary.org/obo/UBERON_0001769 | iris |
| HP:0032341 | Reduced forced vital capacity |
| HP:0032346 | Cutaneous lichen amyloidosis |
| HP:0032345 | Elevated cancer Ag 19-9 level |
| HP:0032344 | Upslanting toenail |
| http://purl.obolibrary.org/obo/UBERON_0001764 | maxillary sinus |
| http://purl.obolibrary.org/obo/UBERON_0001766 | anterior chamber of eyeball |
| http://purl.obolibrary.org/obo/UBERON_0006311 | chamber of eyeball |
| HP:0007371 | Corpus callosum atrophy |
| HP:0012762 | Cerebral white matter atrophy |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0012429 | Aplasia/Hypoplasia of the cerebral white matter |
| http://purl.obolibrary.org/obo/UBERON_0001765 | mammary duct |
| http://purl.obolibrary.org/obo/UBERON_0001768 | uvea |
| HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract |
| http://purl.obolibrary.org/obo/UBERON_0013748 | ulnar metaphysis |
| HP:0007362 | Aplasia/Hypoplasia of the brainstem |
| http://purl.obolibrary.org/obo/UBERON_0013749 | metaphysis of humerus |
| http://purl.obolibrary.org/obo/UBERON_0001760 | frontal sinus |
| HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts |
| http://purl.obolibrary.org/obo/GO_0061696 | pituitary gonadotropin complex |
| HP:0032349 | Serinuria |
| http://purl.obolibrary.org/obo/GO_0061695 | transferase complex, transferring phosphorus-containing groups |
| http://purl.obolibrary.org/obo/GO_1990234 | transferase complex |
| http://purl.obolibrary.org/obo/GO_1902494 | catalytic complex |
| HP:0032348 | Cutaneous nodular amyloidosis |
| HP:0032347 | Cutaneous macular amyloidosis |
| HP:0012309 | Cutaneous amyloidosis |
| HP:0032331 | Increased urinary 11-deoxytetrahydrocorticosterone level |
| HP:0032330 | Increased urinary 11-deoxycorticosterone level |
| HP:0032335 | Monoclonal elevation of circulating IgA |
| http://purl.obolibrary.org/obo/UBERON_0013750 | metaphysis of tibia |
| HP:0032334 | Oligoclonal elevation of circulating IgA |
| HP:0032333 | Polyclonal elevation of circulating IgA |
| HP:0032332 | Oligoclonal elevation of circulating IgM |
| http://purl.obolibrary.org/obo/UBERON_0001773 | sclera |
| http://purl.obolibrary.org/obo/UBERON_0001772 | corneal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0001775 | ciliary body |
| http://purl.obolibrary.org/obo/UBERON_0001777 | substantia propria of cornea |
| http://purl.obolibrary.org/obo/UBERON_0001776 | optic choroid |
| http://purl.obolibrary.org/obo/UBERON_0002203 | vasculature of eye |
| http://purl.obolibrary.org/obo/UBERON_0002200 | vasculature of head |
| HP:0007381 | Congenital exfoliative erythroderma |
| HP:0001019 | Erythroderma |
| http://purl.obolibrary.org/obo/UBERON_0001779 | iris stroma |
| http://purl.obolibrary.org/obo/UBERON_0001778 | ciliary epithelium |
| http://purl.obolibrary.org/obo/UBERON_0000488 | atypical epithelium |
| HP:0007374 | Atrophy/Degeneration involving the caudate nucleus |
| HP:0002339 | Abnormal caudate nucleus morphology |
| HP:0007373 | Motor neuron atrophy |
| HP:0002450 | Abnormal motor neuron morphology |
| HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts |
| HP:0002492 | Morphological abnormality of the corticospinal tract |
| HP:0002062 | Morphological abnormality of the pyramidal tract |
| HP:0007377 | Abnormality of somatosensory evoked potentials |
| http://purl.obolibrary.org/obo/UBERON_0001771 | pupil |
| http://purl.obolibrary.org/obo/UBERON_0013753 | distal epiphysis of metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0004390 | epiphysis of metacarpal bone |
| HP:0032339 | Polyclonal elevation of circulating IgE |
| http://purl.obolibrary.org/obo/UBERON_0013754 | integumentary system layer |
| HP:0032338 | Oligoclonal elevation of circulating IgE |
| http://purl.obolibrary.org/obo/UBERON_0013751 | metaphysis of radius |
| HP:0032337 | Monoclonal elevation of circulating IgE |
| http://purl.obolibrary.org/obo/UBERON_0013752 | diaphysis of metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0013757 | capillary blood |
| http://purl.obolibrary.org/obo/UBERON_0013758 | cervical os |
| http://purl.obolibrary.org/obo/UBERON_0013755 | arterial blood |
| http://purl.obolibrary.org/obo/UBERON_0013756 | venous blood |
| http://purl.obolibrary.org/obo/UBERON_0000178 | blood |
| http://purl.obolibrary.org/obo/UBERON_0000179 | haemolymphatic fluid |
| http://purl.obolibrary.org/obo/CHEBI_7896 | hexadecanoate |
| http://purl.obolibrary.org/obo/CHEBI_78123 | fatty acid anion 16:0 |
| http://purl.obolibrary.org/obo/CHEBI_76619 | omega-methyl fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_57560 | long-chain fatty acid anion |
| http://purl.obolibrary.org/obo/UBERON_0001703 | neurocranium |
| http://purl.obolibrary.org/obo/UBERON_0011158 | primary subdivision of skull |
| http://purl.obolibrary.org/obo/UBERON_0001706 | nasal septum |
| http://purl.obolibrary.org/obo/UBERON_0001705 | nail |
| http://purl.obolibrary.org/obo/UBERON_0009564 | distal limb integumentary appendage |
| http://purl.obolibrary.org/obo/UBERON_0001708 | jaw skeleton |
| http://purl.obolibrary.org/obo/UBERON_0001707 | nasal cavity |
| http://purl.obolibrary.org/obo/UBERON_0001709 | upper jaw region |
| http://purl.obolibrary.org/obo/UBERON_0001700 | geniculate ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001702 | eyelash |
| http://purl.obolibrary.org/obo/UBERON_0001715 | oculomotor nuclear complex |
| http://purl.obolibrary.org/obo/UBERON_0019267 | gray matter of midbrain |
| http://purl.obolibrary.org/obo/UBERON_0007245 | nuclear complex of neuraxis |
| HP:0032397 | Citrullinuria |
| HP:0032396 | Transmantle columnar heterotopia |
| HP:0032395 | Curvilinear subcortical heterotopia |
| HP:0032394 | Mesial parasagittal subcortical heterotopia |
| http://purl.obolibrary.org/obo/UBERON_0001716 | secondary palate |
| http://purl.obolibrary.org/obo/UBERON_0007375 | roof of mouth |
| HP:0032399 | Dysgyria with normal cortical thickness |
| HP:0032398 | Dysgyria |
| HP:0032393 | Diffuse ribbon-like subcortical heterotopia |
| http://purl.obolibrary.org/obo/UBERON_0001710 | lower jaw region |
| HP:0032392 | Nodular subcortical heterotopia in peritrigonal regions |
| http://purl.obolibrary.org/obo/UBERON_0001713 | lower eyelid |
| http://purl.obolibrary.org/obo/UBERON_0001712 | upper eyelid |
| http://purl.obolibrary.org/obo/UBERON_0001711 | eyelid |
| HP:0032390 | Periventricular ribbonlike heterotopia |
| http://purl.obolibrary.org/obo/UBERON_0001726 | papilla of tongue |
| HP:0032386 | Elevated transferrin level |
| http://purl.obolibrary.org/obo/UBERON_0001725 | cranial synchondrosis |
| http://purl.obolibrary.org/obo/UBERON_0002215 | synchondrosis |
| HP:0032384 | Uniparental isodisomy |
| http://purl.obolibrary.org/obo/UBERON_0001728 | nasopharynx |
| http://purl.obolibrary.org/obo/UBERON_0001727 | taste bud |
| HP:0032383 | Uniparental heterodisomy |
| HP:0032389 | Periventricular laminar heterotopia |
| HP:0032388 | Periventricular nodular heterotopia |
| HP:0007165 | Periventricular heterotopia |
| HP:0032387 | Reduced transferrin level |
| HP:0032385 | Abnormal circulating transferrin level |
| HP:0025465 | Abnormal circulating beta globulin level |
| http://purl.obolibrary.org/obo/UBERON_0001720 | cochlear nucleus |
| http://purl.obolibrary.org/obo/UBERON_0007635 | nucleus of medulla oblongata |
| http://purl.obolibrary.org/obo/UBERON_0009662 | hindbrain nucleus |
| http://purl.obolibrary.org/obo/UBERON_0006331 | brainstem nucleus |
| HP:0032382 | Uniparental disomy |
| HP:0000005 | Mode of inheritance |
| HP:0032381 | Hydroa vacciniforme |
| http://purl.obolibrary.org/obo/UBERON_0001724 | sphenoidal sinus |
| http://purl.obolibrary.org/obo/UBERON_0001825 | paranasal sinus |
| http://purl.obolibrary.org/obo/UBERON_0001723 | tongue |
| http://purl.obolibrary.org/obo/UBERON_0013704 | notochordal canal |
| http://purl.obolibrary.org/obo/UBERON_0013705 | fascia of Scarpa |
| http://purl.obolibrary.org/obo/UBERON_0013702 | body proper |
| http://purl.obolibrary.org/obo/UBERON_0013700 | axial musculature |
| http://purl.obolibrary.org/obo/UBERON_0013701 | main body axis |
| http://purl.obolibrary.org/obo/UBERON_0001737 | larynx |
| HP:0032375 | Duffy Fyb positivity |
| http://purl.obolibrary.org/obo/UBERON_0001736 | submandibular gland |
| http://purl.obolibrary.org/obo/UBERON_0001829 | major salivary gland |
| HP:0032374 | Duffy Fya positivity |
| HP:0032373 | Duffy blood group |
| http://purl.obolibrary.org/obo/UBERON_0001738 | thyroid cartilage |
| http://purl.obolibrary.org/obo/UBERON_0001739 | laryngeal cartilage |
| HP:0032372 | Increased peripheral blast count |
| HP:0032379 | Polymorphous light eruption |
| HP:0032378 | Immediate-type hypersensitivity drug reaction |
| HP:0032377 | Increased urinary orosomucoid |
| HP:0032376 | Anti-beta 2 glycoprotein I antibody positivity |
| http://purl.obolibrary.org/obo/UBERON_0001731 | cavity of pharynx |
| http://purl.obolibrary.org/obo/UBERON_0001733 | soft palate |
| HP:0032371 | Isoleucinuria |
| http://purl.obolibrary.org/obo/UBERON_0001732 | pharyngeal tonsil |
| http://purl.obolibrary.org/obo/UBERON_0012330 | nasal-associated lymphoid tissue |
| http://purl.obolibrary.org/obo/UBERON_0002372 | tonsil |
| HP:0032370 | Blood group A |
| http://purl.obolibrary.org/obo/UBERON_0001735 | tonsillar ring |
| http://purl.obolibrary.org/obo/UBERON_0001962 | gut-associated lymphoid tissue |
| http://purl.obolibrary.org/obo/UBERON_0001961 | mucosa-associated lymphoid tissue |
| http://purl.obolibrary.org/obo/UBERON_0012069 | epithelium-associated lymphoid tissue |
| http://purl.obolibrary.org/obo/UBERON_0001734 | palatine uvula |
| http://purl.obolibrary.org/obo/UBERON_0013719 | dartos muscle of scrotum |
| http://purl.obolibrary.org/obo/UBERON_0013718 | dartos muscle |
| http://purl.obolibrary.org/obo/CHEBI_10545 | electron |
| http://purl.obolibrary.org/obo/CHEBI_22527 | aminopurine |
| http://purl.obolibrary.org/obo/CHEBI_26401 | purines |
| http://purl.obolibrary.org/obo/CHEBI_35875 | imidazopyrimidine |
| http://purl.obolibrary.org/obo/PR_000048016 | PR:000048016 located_in GO:0005768 |
| http://purl.obolibrary.org/obo/PR_P14784 | interleukin-2 receptor subunit beta (human) |
| http://purl.obolibrary.org/obo/PR_000018446 | interleukin-2 receptor subunit beta, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000048015 | PR:000048015 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P01589 | interleukin-2 receptor subunit alpha (human) |
| http://purl.obolibrary.org/obo/PR_000018444 | interleukin-2 receptor subunit alpha, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001380 | interleukin-2 receptor subunit alpha |
| http://purl.obolibrary.org/obo/UBERON_0035097 | iliocaudalis muscle |
| http://www.informatics.jax.org/marker/MGI:1100886 | Prom1 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0035096 | fascia of tail |
| http://purl.obolibrary.org/obo/UBERON_0035091 | extrinsic post-anal tail muscle |
| http://purl.obolibrary.org/obo/UBERON_0035083 | transverse process-bearing vertebra |
| http://purl.obolibrary.org/obo/GO_1901605 | alpha-amino acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006520 | cellular amino acid metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_5931 | insulin (human) |
| http://purl.obolibrary.org/obo/CHEBI_145810 | insulin |
| http://purl.obolibrary.org/obo/UBERON_0035078 | parotid gland interlobular duct |
| http://purl.obolibrary.org/obo/UBERON_0035073 | duct of eccrine sweat gland |
| http://purl.obolibrary.org/obo/UBERON_0035074 | duct of apocrine sweat gland |
| http://purl.obolibrary.org/obo/PR_000048032 | PR:000048032 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P16871 | interleukin-7 receptor subunit alpha (human) |
| http://purl.obolibrary.org/obo/PR_000018559 | interleukin-7 receptor subunit alpha, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001869 | interleukin-7 receptor subunit alpha |
| http://purl.obolibrary.org/obo/PR_000048036 | PR:000048036 located_in GO:0005788 |
| http://purl.obolibrary.org/obo/PR_000020310 | insulin, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_P01308 | insulin (human) |
| http://purl.obolibrary.org/obo/PR_000048027 | PR:000048027 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_Q01344 | interleukin-5 receptor subunit alpha (human) |
| http://purl.obolibrary.org/obo/PR_000018555 | interleukin-5 receptor subunit alpha, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001867 | interleukin-5 receptor subunit alpha |
| http://purl.obolibrary.org/obo/PR_000048024 | PR:000048024 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P26951 | interleukin-3 receptor subunit alpha (human) |
| http://purl.obolibrary.org/obo/PR_000001865 | interleukin-3 receptor class 2 alpha chain |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=13633 | ADIPOQ (human) |
| http://purl.obolibrary.org/obo/NBO_0000598 | dystonia |
| http://purl.obolibrary.org/obo/NBO_0000009 | locomotory behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000590 | ataxia |
| http://purl.obolibrary.org/obo/NBO_0000591 | motor coordination phenotype |
| http://purl.obolibrary.org/obo/NBO_0000229 | vestibular behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000589 | tremor |
| http://purl.obolibrary.org/obo/NBO_0000586 | opisthotonus |
| http://purl.obolibrary.org/obo/NBO_0000587 | tetanic spasm |
| http://purl.obolibrary.org/obo/NBO_0000588 | spasm |
| http://purl.obolibrary.org/obo/PATO_0002038 | non-degenerate |
| http://purl.obolibrary.org/obo/PATO_0002037 | degeneration |
| http://purl.obolibrary.org/obo/PATO_0002039 | biconcave |
| http://purl.obolibrary.org/obo/PATO_0002034 | undivided |
| http://purl.obolibrary.org/obo/PATO_0002040 | biconvex |
| http://purl.obolibrary.org/obo/PATO_0001355 | convex |
| http://purl.obolibrary.org/obo/PATO_0002043 | increased anterior-posterior diameter |
| http://purl.obolibrary.org/obo/PATO_0001714 | increased diameter |
| http://purl.obolibrary.org/obo/PATO_0000573 | increased length |
| http://purl.obolibrary.org/obo/PATO_0002042 | decreased anterior-posterior diameter |
| http://purl.obolibrary.org/obo/PATO_0001715 | decreased diameter |
| http://purl.obolibrary.org/obo/PATO_0000574 | decreased length |
| http://purl.obolibrary.org/obo/PATO_0000587 | decreased size |
| http://purl.obolibrary.org/obo/PATO_0000122 | length |
| http://purl.obolibrary.org/obo/PATO_0002041 | anterior-posterior diameter |
| http://purl.obolibrary.org/obo/PATO_0001334 | diameter |
| http://purl.obolibrary.org/obo/PATO_0001708 | 1-D extent |
| HP:0007544 | Piebaldism |
| HP:0007543 | Epidermal hyperkeratosis |
| HP:0007542 | Absent pigmentation of the ventral chest |
| HP:0007541 | Frontal cutaneous lipoma |
| HP:0007548 | Palmoplantar keratosis with erythema and scale |
| HP:0007546 | Linear hyperpigmentation |
| HP:0007545 | Congenital palmoplantar keratosis |
| HP:0007549 | Desquamation of skin soon after birth |
| http://purl.obolibrary.org/obo/PATO_0002026 | non-progressive |
| HP:0007554 | Confetti hypopigmentation pattern of lower leg skin |
| HP:0007553 | Congenital symmetrical palmoplantar keratosis |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution |
| HP:0007559 | Localized epidermolytic hyperkeratosis |
| http://purl.obolibrary.org/obo/UBERON_0035006 | preputial swelling of female |
| http://purl.obolibrary.org/obo/UBERON_0035005 | preputial swelling of male |
| http://purl.obolibrary.org/obo/UBERON_0035004 | preputial swelling |
| http://purl.obolibrary.org/obo/UBERON_0011088 | ligament of knee joint |
| http://purl.obolibrary.org/obo/UBERON_0011085 | palatoquadrate arch |
| http://purl.obolibrary.org/obo/PATO_0002056 | decreased fragility |
| http://purl.obolibrary.org/obo/PATO_0002055 | increased fragility |
| http://purl.obolibrary.org/obo/PATO_0001362 | fragile |
| http://purl.obolibrary.org/obo/PATO_0001662 | fragility |
| HP:0007561 | Telangiectases in sun-exposed and nonexposed skin |
| HP:0007560 | Unusual dermatoglyphics |
| HP:0007566 | Index finger dermatoglyphic radial loop |
| HP:0007565 | Multiple cafe-au-lait spots |
| HP:0000957 | Cafe-au-lait spot |
| HP:0007569 | Generalized seborrheic dermatitis |
| HP:0001051 | Seborrheic dermatitis |
| http://purl.obolibrary.org/obo/GO_0010469 | regulation of signaling receptor activity |
| http://purl.obolibrary.org/obo/PR_000026631 | transmembrane emp24 domain-containing protein 1, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000016401 | transmembrane emp24 domain-containing protein 1 |
| http://purl.obolibrary.org/obo/UBERON_0011093 | left pelvic girdle region |
| http://purl.obolibrary.org/obo/UBERON_0011092 | right pelvic girdle region |
| http://purl.obolibrary.org/obo/UBERON_0011096 | lacrimal nerve |
| http://purl.obolibrary.org/obo/PATO_0002049 | lateral and rotional curvature |
| http://purl.obolibrary.org/obo/PATO_0001787 | rotational curvature |
| http://purl.obolibrary.org/obo/GO_0034435 | cholesterol esterification |
| http://purl.obolibrary.org/obo/GO_0034434 | sterol esterification |
| http://purl.obolibrary.org/obo/GO_0034433 | steroid esterification |
| http://purl.obolibrary.org/obo/GO_0008202 | steroid metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0011091 | skeleton of left pelvic girdle |
| http://purl.obolibrary.org/obo/PATO_0002044 | trapezoid |
| http://purl.obolibrary.org/obo/UBERON_0011090 | skeleton of right pelvic girdle |
| http://purl.obolibrary.org/obo/UBERON_0007832 | pelvic girdle skeleton |
| http://purl.obolibrary.org/obo/UBERON_0010719 | girdle skeleton |
| http://purl.obolibrary.org/obo/PATO_0002052 | decreased occurrence |
| HP:0007573 | Late onset atopic dermatitis |
| HP:0001047 | Atopic dermatitis |
| HP:0000964 | Eczema |
| http://purl.obolibrary.org/obo/PATO_0002051 | increased occurrence |
| http://purl.obolibrary.org/obo/PATO_0000057 | occurrence |
| HP:0007572 | Hyperpigmented streaks |
| HP:0007570 | Hyperkeratosis lenticularis perstans |
| HP:0007576 | Palmar neurofibromas |
| HP:0007574 | Generalized bronze hyperpigmentation |
| http://purl.obolibrary.org/obo/UBERON_0013680 | inner canthus of left eye |
| HP:0007509 | Patchy hypo- and hyperpigmentation |
| http://purl.obolibrary.org/obo/UBERON_0013683 | left dorsal thalamus |
| HP:0032522 | Ameliorated by immunosuppresion |
| http://purl.obolibrary.org/obo/UBERON_0013684 | right dorsal thalamus |
| http://purl.obolibrary.org/obo/UBERON_0004703 | dorsal thalamus |
| HP:0032521 | Self hugging |
| http://purl.obolibrary.org/obo/UBERON_0035053 | interlobular duct of salivary gland |
| HP:0032520 | Masseter muscular weakness |
| http://purl.obolibrary.org/obo/PATO_0002087 | bullet-shaped |
| HP:0007500 | Decreased number of sweat glands |
| http://purl.obolibrary.org/obo/UBERON_0013687 | pericranium |
| http://purl.obolibrary.org/obo/UBERON_0002515 | periosteum |
| HP:0007504 | Diffuse slow skin atrophy |
| HP:0032526 | Ameliorated by acetylcholinesterase inhibitor |
| http://purl.obolibrary.org/obo/UBERON_0013688 | tonsil germinal center |
| http://purl.obolibrary.org/obo/UBERON_0010754 | germinal center |
| HP:0007503 | Generalized ichthyosis |
| HP:0032525 | Aggravated by acetylcholinesterase inhibitor |
| http://purl.obolibrary.org/obo/UBERON_0011024 | extrinsic extensor muscle of manus |
| http://purl.obolibrary.org/obo/UBERON_0000311 | extensor muscle |
| http://purl.obolibrary.org/obo/UBERON_0004254 | forelimb zeugopod muscle |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0032524 | Long thumb |
| http://purl.obolibrary.org/obo/UBERON_0013686 | anatomical conduit space |
| HP:0007501 | Streaks of hyperkeratosis along each finger onto the palm |
| HP:0032523 | Tendon thickening |
| HP:0007508 | Punctate palmar hyperkeratosis |
| HP:0032529 | Elevated circulating gamma-aminobutyric acid concentration |
| HP:0007506 | Congenital absence of skin of limbs |
| HP:0007383 | Congenital localized absence of skin |
| HP:0032528 | Elevated urinary 4-hydroxybutyric acid |
| HP:0007505 | Progressive hyperpigmentation |
| HP:0032527 | Inferiorly positioned umbilicus |
| http://purl.obolibrary.org/obo/UBERON_0013691 | buttock |
| http://purl.obolibrary.org/obo/UBERON_0035045 | parotid gland intralobular duct |
| http://purl.obolibrary.org/obo/UBERON_0014719 | intralobular duct |
| http://purl.obolibrary.org/obo/UBERON_0013694 | brain endothelium |
| HP:0032511 | Superiorly positioned umbilicus |
| HP:0001551 | Abnormal umbilicus morphology |
| http://purl.obolibrary.org/obo/UBERON_0013695 | colon endothelium |
| http://purl.obolibrary.org/obo/UBERON_0000397 | colonic epithelium |
| HP:0032510 | Tendon pain |
| http://purl.obolibrary.org/obo/GO_1901657 | glycosyl compound metabolic process |
| http://purl.obolibrary.org/obo/PATO_0002076 | movement behavioral quality |
| HP:0007511 | Mottled pigmentation of photoexposed areas |
| HP:0001070 | Mottled pigmentation |
| HP:0007510 | Focal dermal aplasia/hypoplasia |
| http://purl.obolibrary.org/obo/PATO_0002072 | decreased affinity |
| http://purl.obolibrary.org/obo/PATO_0002071 | increased affinity |
| http://purl.obolibrary.org/obo/UBERON_0013698 | strand of pubic hair |
| HP:0007515 | Hypoplastic pilosebaceous units |
| HP:0032515 | Deep dermatophytosis |
| http://purl.obolibrary.org/obo/UBERON_0013699 | strand of axillary hair |
| HP:0007514 | Edema of the dorsum of hands |
| HP:0032514 | Duplicated lacrimal punctum |
| http://purl.obolibrary.org/obo/UBERON_0013696 | tonsil epithelium |
| HP:0007513 | Generalized hypopigmentation |
| HP:0032513 | Four-vessel umbilical cord |
| HP:0011403 | Abnormal umbilical cord blood vessels |
| http://purl.obolibrary.org/obo/UBERON_0013697 | exocrine pancreas epithelium |
| http://purl.obolibrary.org/obo/UBERON_0035048 | parotid gland excretory duct |
| HP:0032519 | Increased Burr cell count |
| HP:0032518 | Disseminated dermatophytosis |
| HP:0007517 | Palmoplantar cutis laxa |
| HP:0032517 | Majocchi's granuloma |
| http://purl.obolibrary.org/obo/UBERON_0035049 | excretory duct of salivary gland |
| http://purl.obolibrary.org/obo/UBERON_0001837 | duct of salivary gland |
| HP:0007516 | Redundant skin on fingers |
| HP:0032516 | Invasive dermatophyte infection |
| HP:0032162 | Unusual skin infection |
| http://purl.obolibrary.org/obo/UBERON_0035032 | abdominal oblique muscle |
| HP:0032500 | Exacerbated by tobacco use |
| HP:0032509 | Onychotillomania |
| HP:0007522 | Increased number of skin folds |
| HP:0007521 | Irregular hyperpigmentation of back |
| HP:0007526 | Hypopigmented skin patches on arms |
| HP:0032504 | Lhermitte's sign |
| HP:0007525 | Yellow subcutaneous tissue covered by thin, scaly skin |
| HP:0032503 | Ameliorated by ethanol ingestion |
| HP:0025254 | Ameliorated by |
| HP:0007524 | Atypical neurofibromatosis |
| HP:0032502 | Exacerbated by barbiturate medication |
| HP:0032501 | Exacerbated by contraceptive medication |
| HP:0032508 | Polyembolokoilamania |
| http://purl.obolibrary.org/obo/UBERON_0035036 | naris epithelium |
| HP:0007529 | Hidrotic ectodermal dysplasia |
| HP:0032507 | Labiomental fasciculations |
| HP:0007089 | Facial-lingual fasciculations |
| HP:0010546 | Muscle fibrillation |
| HP:0002380 | Fasciculations |
| HP:0032506 | Alien limb phenomenon |
| http://purl.obolibrary.org/obo/UBERON_0035038 | carpal tunnel |
| HP:0032505 | Hydrophobia |
| http://purl.obolibrary.org/obo/UBERON_0035021 | right vagus X nerve trunk |
| http://purl.obolibrary.org/obo/UBERON_0035020 | left vagus X nerve trunk |
| http://purl.obolibrary.org/obo/PATO_0002089 | polycystic |
| http://purl.obolibrary.org/obo/PATO_0001673 | cystic |
| http://purl.obolibrary.org/obo/PATO_0002096 | neoplastic, non-malignant |
| http://purl.obolibrary.org/obo/PATO_0002097 | neoplastic, malignant |
| http://purl.obolibrary.org/obo/PATO_0002094 | basophilic |
| http://purl.obolibrary.org/obo/PATO_0002070 | affinity |
| http://purl.obolibrary.org/obo/PATO_0002093 | ballooning |
| http://purl.obolibrary.org/obo/PATO_0000595 | increased volume |
| http://purl.obolibrary.org/obo/PATO_0000586 | increased size |
| http://purl.obolibrary.org/obo/PATO_0000918 | volume |
| http://purl.obolibrary.org/obo/PATO_0001710 | 3-D extent |
| http://purl.obolibrary.org/obo/PATO_0000117 | size |
| HP:0007530 | Punctate palmoplantar hyperkeratosis |
| HP:0007537 | Severe photosensitivity |
| HP:0007536 | Aplasia cutis congenita of midline scalp vertex |
| HP:0004471 | Aplasia cutis congenita over the scalp vertex |
| HP:0007534 | Congenital posterior occipital alopecia |
| HP:0032441 | Blood group AB |
| HP:0032440 | Blood group B |
| HP:0032444 | Status post organ transplantation |
| HP:0032442 | Blood group O |
| HP:0032224 | ABO blood group |
| HP:0032223 | Blood group |
| http://purl.obolibrary.org/obo/UBERON_0001663 | cerebral vein |
| http://purl.obolibrary.org/obo/UBERON_0001665 | triceps surae |
| http://purl.obolibrary.org/obo/UBERON_0001667 | tibialis posterior |
| http://purl.obolibrary.org/obo/UBERON_0001668 | cerebellar vein |
| HP:0032449 | Abnormal dermoepidermal hemidesmosome morphology |
| HP:0031538 | Abnormal dermoepidermal junction morphology |
| HP:0032448 | Achlorhydria |
| HP:0032447 | Pulmonary bleb |
| HP:0032446 | Pulmonary bulla |
| http://purl.obolibrary.org/obo/UBERON_0013647 | lateral pterygoid nerve |
| http://purl.obolibrary.org/obo/UBERON_0013648 | masseteric artery |
| http://purl.obolibrary.org/obo/UBERON_0013646 | buccal nerve |
| HP:0032430 | Increased HDL3b concentration |
| HP:0032434 | Delayed umbilical cord separation |
| HP:0032433 | Decreased HDL3c concentration |
| HP:0032432 | Increased HDL3c concentration |
| HP:0032431 | Decreased HDL3b concentration |
| http://purl.obolibrary.org/obo/UBERON_0001674 | masseteric vein |
| http://purl.obolibrary.org/obo/UBERON_0001676 | occipital bone |
| http://purl.obolibrary.org/obo/UBERON_0001675 | trigeminal ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001800 | sensory ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001678 | temporal bone |
| http://purl.obolibrary.org/obo/UBERON_0001677 | sphenoid bone |
| http://purl.obolibrary.org/obo/UBERON_0008193 | pneumatized bone |
| http://purl.obolibrary.org/obo/UBERON_0001679 | ethmoid bone |
| HP:0032438 | Platelet anisocytosis |
| HP:0032437 | Reduced C-reactive protein level |
| HP:0032436 | Abnormal C-reactive protein level |
| HP:0032435 | Neonatal omphalitis |
| HP:0032439 | Airborn particle hypersensitivity |
| HP:0032423 | Decreased HDL2b concentration |
| HP:0032421 | Decreased HDL2a concentration |
| HP:0032420 | Increased HDL2a concentration |
| http://purl.obolibrary.org/obo/UBERON_0001685 | hyoid bone |
| http://purl.obolibrary.org/obo/UBERON_0001684 | mandible |
| http://purl.obolibrary.org/obo/UBERON_0004742 | dentary |
| http://purl.obolibrary.org/obo/UBERON_0004768 | bone of lower jaw |
| http://purl.obolibrary.org/obo/UBERON_0001687 | stapes bone |
| http://purl.obolibrary.org/obo/UBERON_0015016 | stapes endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001689 | malleus bone |
| http://purl.obolibrary.org/obo/UBERON_0015018 | malleus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001688 | incus bone |
| http://purl.obolibrary.org/obo/UBERON_0015017 | incus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001686 | auditory ossicle bone |
| http://purl.obolibrary.org/obo/UBERON_0035130 | auditory ossicle endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001681 | nasal bone |
| http://purl.obolibrary.org/obo/UBERON_0001680 | lacrimal bone |
| http://purl.obolibrary.org/obo/UBERON_0001683 | jugal bone |
| http://purl.obolibrary.org/obo/UBERON_0001682 | palatine bone |
| http://purl.obolibrary.org/obo/UBERON_0011597 | bone of upper jaw |
| http://purl.obolibrary.org/obo/UBERON_0012360 | bone of jaw |
| http://purl.obolibrary.org/obo/UBERON_0012071 | palate bone |
| HP:0032427 | Abnormal HDL3c concentration |
| HP:0032426 | Abnormal HDL3b concentration |
| HP:0032424 | Increased HDL2b concentration |
| HP:0032422 | Abnormal HDL2b concentration |
| HP:0032429 | Decreased HDL3a concentration |
| HP:0032428 | Increased HDL3a concentration |
| HP:0032425 | Abnormal HDL3a concentration |
| HP:0032412 | Anterior predominant subcortical band heterotopia |
| HP:0032411 | Posterior predominant subcortical band heterotopia |
| HP:0032410 | Bilateral generalized polymicrogyria |
| http://purl.obolibrary.org/obo/UBERON_0001695 | squamous part of temporal bone |
| http://purl.obolibrary.org/obo/UBERON_0011164 | neurocranium bone |
| http://purl.obolibrary.org/obo/UBERON_0004766 | cranial bone |
| http://purl.obolibrary.org/obo/UBERON_0008907 | dermal bone |
| http://purl.obolibrary.org/obo/UBERON_0004756 | dermal skeletal element |
| http://purl.obolibrary.org/obo/UBERON_0007842 | membrane bone |
| http://purl.obolibrary.org/obo/UBERON_0002514 | intramembranous bone |
| http://purl.obolibrary.org/obo/CHEBI_46883 | carboxy group |
| http://purl.obolibrary.org/obo/UBERON_0001697 | orbit of skull |
| http://purl.obolibrary.org/obo/UBERON_0001690 | ear |
| http://purl.obolibrary.org/obo/UBERON_0001691 | external ear |
| http://purl.obolibrary.org/obo/UBERON_0001694 | petrous part of temporal bone |
| HP:0032415 | Parasagittal parieto-occipital polymicrogyria |
| HP:0032414 | Hydrixylysinuria |
| HP:0032413 | Diffuse subcortical band heterotopia |
| HP:0032409 | Subcortical band heterotopia |
| HP:0032391 | Subcortical heterotopia |
| HP:0002282 | Gray matter heterotopia |
| HP:0032419 | Abnormal HDL2a concentration |
| http://purl.obolibrary.org/obo/UBERON_0013678 | anatomical line between inner canthi |
| HP:0032418 | Abnormal HDL subfraction concentration |
| http://purl.obolibrary.org/obo/UBERON_0013679 | inner canthus of right eye |
| http://purl.obolibrary.org/obo/UBERON_0005611 | inner canthus |
| HP:0032417 | Periglomerular fibrosis |
| HP:0032484 | Elevated fecal sodium |
| http://purl.obolibrary.org/obo/UBERON_0001628 | posterior communicating artery |
| http://purl.obolibrary.org/obo/UBERON_0006347 | communicating artery |
| HP:0032482 | Decreased pituitary glycoprotein hormone alpha subunit level |
| HP:0032489 | Elevated fecal pH |
| HP:0032487 | Reduced fecal osmolality |
| HP:0032486 | Elevated fecal osmolality |
| HP:0032485 | Abnormal fecal osmolality |
| http://purl.obolibrary.org/obo/UBERON_0001621 | coronary artery |
| http://purl.obolibrary.org/obo/UBERON_0001620 | central retinal artery |
| http://purl.obolibrary.org/obo/UBERON_0001623 | dorsal nasal artery |
| HP:0007470 | Periarticular subcutaneous nodules |
| HP:0001482 | Subcutaneous nodule |
| HP:0200036 | Skin nodule |
| HP:0032481 | Abnormal pituitary glycoprotein hormone alpha subunit level |
| http://purl.obolibrary.org/obo/UBERON_0001622 | lacrimal artery |
| http://purl.obolibrary.org/obo/GO_0009437 | carnitine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006577 | amino-acid betaine metabolic process |
| http://purl.obolibrary.org/obo/GO_0006575 | cellular modified amino acid metabolic process |
| HP:0032480 | Beta-aminoisobutyric aciduria |
| http://purl.obolibrary.org/obo/GO_0009438 | methylglyoxal metabolic process |
| http://purl.obolibrary.org/obo/GO_0006081 | cellular aldehyde metabolic process |
| HP:0007462 | Bitot spots of the conjunctiva |
| HP:0007460 | Autoamputation of digits |
| HP:0001218 | Autoamputation |
| HP:0007466 | Midfrontal capillary hemangioma |
| HP:0007465 | Honeycomb palmoplantar keratoderma |
| HP:0007464 | Sparse facial hair |
| HP:0007469 | Palmoplantar cutis gyrata |
| HP:0007468 | Perifollicular hyperkeratosis |
| HP:0032473 | Decreased urine urobilinogen |
| HP:0032472 | Abnormal urine urobilinogen level |
| http://purl.obolibrary.org/obo/UBERON_0001639 | hepatic portal vein |
| HP:0032471 | Focal polymicrogyria |
| HP:0002126 | Polymicrogyria |
| HP:0032478 | Lateral spinal meningocele |
| HP:0032477 | Elevated circulating vitamin B6 level |
| HP:0032476 | Abnormal circulating vitamin B6 level |
| HP:0032475 | 6-layered lissencephaly |
| http://purl.obolibrary.org/obo/UBERON_0001631 | thoracic duct |
| HP:0007481 | Hyperpigmented nevi |
| HP:0032470 | Monilethrix |
| http://purl.obolibrary.org/obo/UBERON_0001633 | basilar artery |
| http://purl.obolibrary.org/obo/UBERON_0035307 | branch of vertebral artery |
| HP:0007480 | Decreased sweating due to autonomic dysfunction |
| HP:0000966 | Hypohidrosis |
| HP:0007550 | Hypohidrosis or hyperhidrosis |
| HP:0025276 | Abnormality of skin adnexa physiology |
| http://purl.obolibrary.org/obo/UBERON_0001635 | superior cerebellar artery |
| http://purl.obolibrary.org/obo/UBERON_0035489 | branch of basilar artery |
| http://purl.obolibrary.org/obo/UBERON_0013619 | upper secondary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018613 | secondary upper tooth |
| HP:0007473 | Crusting erythematous dermatitis |
| http://purl.obolibrary.org/obo/UBERON_0013617 | upper primary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018616 | primary upper tooth |
| HP:0007471 | Axillary and groin hyperpigmentation and hypopigmentation |
| HP:0007476 | Anhidrotic ectodermal dysplasia |
| HP:0007475 | Congenital bullous ichthyosiform erythroderma |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
| HP:0007431 | Congenital ichthyosiform erythroderma |
| HP:0008064 | Ichthyosis |
| HP:0032479 | Preimplantation lethality |
| http://purl.obolibrary.org/obo/UBERON_0001649 | glossopharyngeal nerve |
| HP:0032463 | Reduced circulating fibronectin level |
| http://purl.obolibrary.org/obo/UBERON_0001648 | vestibulocochlear nerve |
| HP:0032462 | Increased circulating palmitate level |
| HP:0032460 | Decreased phosphoribosylpyrophosphate synthetase level |
| http://purl.obolibrary.org/obo/PATO_0002019 | aplastic growth |
| http://purl.obolibrary.org/obo/PATO_0001433 | growth quality of occurrent |
| HP:0032466 | Aplasia of the olfactory bulb |
| HP:0032465 | Bladder trabeculation |
| HP:0032464 | Ureteral hypoplasia |
| http://purl.obolibrary.org/obo/UBERON_0001641 | transverse sinus |
| http://purl.obolibrary.org/obo/UBERON_0017635 | paired venous dural sinus |
| http://purl.obolibrary.org/obo/UBERON_0005486 | venous dural sinus |
| http://purl.obolibrary.org/obo/UBERON_0006615 | venous sinus |
| http://purl.obolibrary.org/obo/UBERON_0001640 | celiac artery |
| http://purl.obolibrary.org/obo/UBERON_0001643 | oculomotor nerve |
| http://purl.obolibrary.org/obo/UBERON_0001645 | trigeminal nerve |
| http://purl.obolibrary.org/obo/PATO_0002011 | neoplastic |
| http://purl.obolibrary.org/obo/UBERON_0001644 | trochlear nerve |
| http://purl.obolibrary.org/obo/UBERON_0001647 | facial nerve |
| HP:0007490 | Linear arrays of macular hyperkeratoses in flexural areas |
| http://purl.obolibrary.org/obo/UBERON_0001646 | abducens nerve |
| http://purl.obolibrary.org/obo/GO_0022403 | cell cycle phase |
| HP:0007483 | Depigmentation/hyperpigmentation of skin |
| http://purl.obolibrary.org/obo/PATO_0002021 | conical |
| HP:0007482 | Generalized papillary lesions |
| HP:0007489 | Diffuse telangiectasia |
| HP:0007488 | Diffuse skin atrophy |
| HP:0004334 | Dermal atrophy |
| HP:0007486 | Cavernous hemangioma of the face |
| HP:0001048 | Cavernous hemangioma |
| http://purl.obolibrary.org/obo/UBERON_0013621 | lower secondary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0018614 | permanent lower tooth |
| http://purl.obolibrary.org/obo/UBERON_0013618 | secondary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0007775 | secondary tooth |
| HP:0032469 | Anti-asialoglycoprotein receptor antibody positivity |
| http://purl.obolibrary.org/obo/UBERON_0013620 | lower primary molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0013616 | primary molar tooth |
| HP:0032468 | History of stillbirth |
| HP:0032467 | Past obstetric history |
| http://purl.obolibrary.org/obo/PR_P14151 | L-selectin (human) |
| HP:0032452 | Oral melanoacanthoma |
| HP:0032451 | Oral melanotic macule |
| HP:0100669 | Abnormal pigmentation of the oral mucosa |
| HP:0032450 | Positive blood arsenic test |
| http://purl.obolibrary.org/obo/PATO_0002009 | branchiness |
| HP:0032456 | Unlayered lissencephaly |
| HP:0032455 | Reduced granulocyte CD18 level |
| HP:0031553 | Reduced granulocyte surface marker level |
| HP:0031551 | Reduced cell surface marker level |
| HP:0031550 | Abnormal flow cytometry test result |
| http://purl.obolibrary.org/obo/UBERON_2007013 | preplacodal ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0005497 | non-neural ectoderm |
| HP:0032454 | Labial melanotic macule |
| HP:0032453 | Abnormal lip pigmentation |
| http://purl.obolibrary.org/obo/UBERON_0001652 | left pulmonary artery |
| http://purl.obolibrary.org/obo/UBERON_0001651 | right pulmonary artery |
| http://purl.obolibrary.org/obo/PATO_0002007 | convex 3-D shape |
| http://purl.obolibrary.org/obo/UBERON_0001653 | facial vein |
| http://purl.obolibrary.org/obo/PATO_0002001 | has fewer parts of type |
| http://purl.obolibrary.org/obo/PATO_0002000 | lacks all parts of type |
| http://purl.obolibrary.org/obo/PATO_0001999 | lacks parts or has fewer parts of type |
| http://purl.obolibrary.org/obo/PATO_0002002 | has extra parts of type |
| http://purl.obolibrary.org/obo/PATO_0002083 | altered number of |
| http://purl.obolibrary.org/obo/PATO_0001555 | has number of |
| HP:0007494 | Discrete 2 to 5-mm hyper- and hypopigmented macules |
| HP:0007441 | Hyperpigmented/hypopigmented macules |
| HP:0009123 | Mixed hypo- and hyperpigmentation of the skin |
| HP:0007499 | Recurrent staphylococcal infections |
| http://purl.obolibrary.org/obo/GO_0022410 | circadian sleep/wake cycle process |
| http://purl.obolibrary.org/obo/GO_0048512 | circadian behavior |
| http://purl.obolibrary.org/obo/UBERON_0001650 | hypoglossal nerve |
| http://purl.obolibrary.org/obo/UBERON_0001785 | cranial nerve |
| http://purl.obolibrary.org/obo/UBERON_0034713 | cranial neuron projection bundle |
| HP:0007497 | Focal friction-related palmoplantar hyperkeratosis |
| http://purl.obolibrary.org/obo/UBERON_0013632 | sesamoid cartilage |
| HP:0032458 | Narrowing of medullary canal |
| HP:0032457 | 2-3-layered lissencephaly |
| HP:0001339 | Lissencephaly |
| HP:0002536 | Abnormal cortical gyration |
| HP:0002269 | Abnormality of neuronal migration |
| http://purl.obolibrary.org/obo/UBERON_0013636 | epithelium of intestinal villus |
| http://purl.obolibrary.org/obo/UBERON_0001902 | epithelium of small intestine |
| http://purl.obolibrary.org/obo/UBERON_0013637 | prostate gland lateral lobe |
| http://purl.obolibrary.org/obo/UBERON_0001605 | ciliary muscle |
| http://purl.obolibrary.org/obo/UBERON_0001604 | levator palpebrae superioris |
| http://purl.obolibrary.org/obo/UBERON_0001607 | sphincter pupillae |
| http://purl.obolibrary.org/obo/UBERON_0007521 | smooth muscle sphincter |
| http://purl.obolibrary.org/obo/UBERON_0001606 | muscle of iris |
| http://purl.obolibrary.org/obo/UBERON_0011222 | intra-ocular muscle |
| http://purl.obolibrary.org/obo/UBERON_0001608 | dilatator pupillae |
| http://purl.obolibrary.org/obo/UBERON_0004234 | iris smooth muscle |
| http://purl.obolibrary.org/obo/CHEBI_83822 | non-proteinogenic L-alpha-amino acid |
| http://purl.obolibrary.org/obo/UBERON_0001600 | tensor tympani |
| http://purl.obolibrary.org/obo/UBERON_0001603 | lateral rectus extra-ocular muscle |
| http://purl.obolibrary.org/obo/UBERON_0001602 | medial rectus extraocular muscle |
| http://purl.obolibrary.org/obo/UBERON_0006533 | rectus extraocular muscle |
| http://purl.obolibrary.org/obo/UBERON_0006531 | oculomotor muscle |
| http://purl.obolibrary.org/obo/UBERON_0001601 | extra-ocular muscle |
| http://purl.obolibrary.org/obo/UBERON_0001616 | maxillary artery |
| HP:0032496 | Elevated terminal:vellus ratio |
| http://purl.obolibrary.org/obo/UBERON_0001618 | buccal artery |
| http://purl.obolibrary.org/obo/UBERON_0001617 | mental artery |
| HP:0032493 | Increased circulating trypsinogen |
| http://purl.obolibrary.org/obo/UBERON_0001619 | ophthalmic artery |
| HP:0032499 | Giant neutrophil granules |
| HP:0032497 | Reduced terminal:vellus ratio |
| HP:0032495 | Abnormal terminal:vellus ratio |
| http://purl.obolibrary.org/obo/UBERON_0001610 | lingual artery |
| http://purl.obolibrary.org/obo/UBERON_0001612 | facial artery |
| HP:0032492 | Anti-myelin oligodendrocyte glycoprotein antibody positivity |
| http://purl.obolibrary.org/obo/UBERON_0001611 | sublingual artery |
| HP:0032491 | Increased circulating argininosuccinic acid |
| HP:0032490 | Decreased fecal pH |
| HP:0032488 | Abnormal fecal pH |
| http://purl.obolibrary.org/obo/UBERON_0001613 | occipital artery |
| http://purl.obolibrary.org/obo/UBERON_0035398 | branch of external carotid artery |
| http://purl.obolibrary.org/obo/NBO_0000546 | polyphagia |
| http://purl.obolibrary.org/obo/NBO_0000544 | aphagia |
| http://purl.obolibrary.org/obo/NBO_0000539 | eating behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000543 | hyperdipsia |
| http://purl.obolibrary.org/obo/NBO_0000542 | polydipsia |
| http://purl.obolibrary.org/obo/NBO_0000541 | dipsosis |
| http://purl.obolibrary.org/obo/NBO_0000961 | increased frequency of drinking |
| http://purl.obolibrary.org/obo/CHEBI_22860 | amino-acid betaine |
| http://purl.obolibrary.org/obo/CHEBI_35284 | ammonium betaine |
| http://purl.obolibrary.org/obo/CHEBI_35281 | onium betaine |
| http://purl.obolibrary.org/obo/CHEBI_26469 | quaternary nitrogen compound |
| http://purl.obolibrary.org/obo/UBERON_5101463 | manual digit 1 digitopodial skeleton |
| http://purl.obolibrary.org/obo/CHEBI_3306 | calcitonin |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2295 | CP (human) |
| http://purl.obolibrary.org/obo/CHEBI_46818 | urate anion |
| http://purl.obolibrary.org/obo/CHEBI_46819 | urate salt |
| http://purl.obolibrary.org/obo/CHEBI_22881 | biopterins |
| http://purl.obolibrary.org/obo/NBO_0000515 | depressive disorder |
| http://purl.obolibrary.org/obo/NBO_0000256 | mood disorder |
| http://www.informatics.jax.org/marker/MGI:3712069 | Ly6c2 (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_46842 | sarcosinium |
| http://purl.obolibrary.org/obo/GO_1901738 | regulation of vitamin A metabolic process |
| http://purl.obolibrary.org/obo/GO_0030656 | regulation of vitamin metabolic process |
| http://purl.obolibrary.org/obo/GO_1901731 | positive regulation of platelet aggregation |
| http://purl.obolibrary.org/obo/GO_0090330 | regulation of platelet aggregation |
| http://purl.obolibrary.org/obo/GO_0034112 | positive regulation of homotypic cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0034110 | regulation of homotypic cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0046323 | glucose import |
| http://purl.obolibrary.org/obo/GO_1904659 | glucose transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0008645 | hexose transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0015749 | monosaccharide transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0034219 | carbohydrate transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0008643 | carbohydrate transport |
| http://purl.obolibrary.org/obo/GO_0055085 | transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0046326 | positive regulation of glucose import |
| http://purl.obolibrary.org/obo/GO_0046325 | negative regulation of glucose import |
| http://purl.obolibrary.org/obo/GO_0046324 | regulation of glucose import |
| HP:0007609 | Hypoproteinemic edema |
| HP:0007608 | Abnormal palmar dermal ridges |
| HP:0007603 | Freckles in sun-exposed areas |
| HP:0007602 | Complex palmar dermatoglyphic pattern |
| HP:0007601 | Midline facial capillary hemangioma |
| HP:0000996 | Facial capillary hemangioma |
| HP:0000329 | Facial hemangioma |
| HP:0007607 | Hypohidrotic ectodermal dysplasia |
| HP:0000968 | Ectodermal dysplasia |
| HP:0007606 | Multiple cutaneous malignancies |
| HP:0007605 | Excessive wrinkling of palmar skin |
| HP:0007392 | Excessive wrinkled skin |
| HP:0100678 | Premature skin wrinkling |
| HP:0007610 | Blotching pigmentation of the skin |
| HP:0007613 | Spinous keratoses of palms and soles |
| HP:0000972 | Palmoplantar hyperkeratosis |
| HP:0010765 | Palmar hyperkeratosis |
| HP:0007556 | Plantar hyperkeratosis |
| HP:0100872 | Abnormality of the plantar skin of foot |
| HP:0007618 | Subcutaneous calcification |
| HP:0007617 | Fine, reticulate skin pigmentation |
| HP:0007616 | Nevus flammeus nuchae |
| HP:0001052 | Naevus flammeus |
| HP:0025104 | Capillary malformation |
| http://purl.obolibrary.org/obo/NBO_0000455 | attention behavior |
| http://purl.obolibrary.org/obo/NBO_0000446 | visual pursuit |
| http://purl.obolibrary.org/obo/NBO_0000444 | eye movement |
| http://purl.obolibrary.org/obo/PR_Q61549 | adhesion G protein-coupled receptor E1 (mouse) |
| http://purl.obolibrary.org/obo/NBO_0000469 | stress related behavior |
| http://purl.obolibrary.org/obo/PATO_0002155 | medially rotated |
| http://purl.obolibrary.org/obo/PATO_0002154 | splayed ventral |
| http://purl.obolibrary.org/obo/PATO_0001785 | splayed |
| http://purl.obolibrary.org/obo/PATO_0000406 | curved |
| http://purl.obolibrary.org/obo/PATO_0002157 | partially dislocated |
| http://purl.obolibrary.org/obo/PATO_0001852 | dislocated |
| http://purl.obolibrary.org/obo/MPATH_98 | lymphangiectasis |
| http://purl.obolibrary.org/obo/MPATH_474 | ectasia |
| http://purl.obolibrary.org/obo/PATO_0002156 | laterally rotated |
| http://purl.obolibrary.org/obo/PATO_0001599 | rotated |
| http://purl.obolibrary.org/obo/PATO_0000614 | oriented |
| http://purl.obolibrary.org/obo/PATO_0000440 | regular spatial pattern |
| http://purl.obolibrary.org/obo/PATO_0002162 | high-arched |
| http://purl.obolibrary.org/obo/PATO_0001594 | arched |
| http://purl.obolibrary.org/obo/PATO_0001857 | concave |
| http://purl.obolibrary.org/obo/PATO_0002005 | concavity |
| http://purl.obolibrary.org/obo/PATO_0002161 | bicornuate |
| http://purl.obolibrary.org/obo/PATO_0002008 | concave 3-D shape |
| HP:0005001 | Recurrent patellar dislocation |
| HP:0002999 | Patellar dislocation |
| HP:0031869 | Recurrent joint dislocation |
| HP:0032609 | Endocrine-type tubular atrophy |
| http://purl.obolibrary.org/obo/PATO_0002163 | herniated into |
| http://purl.obolibrary.org/obo/PATO_0001645 | protruding into |
| http://purl.obolibrary.org/obo/PATO_0001598 | protruding |
| HP:0032608 | Thyroidization-type tubular atrophy |
| HP:0007665 | Curly eyelashes |
| HP:0002212 | Curly hair |
| http://purl.obolibrary.org/obo/MPATH_90 | aneurysm |
| HP:0032603 | Renal tubular epithelial cell simplification |
| HP:0005008 | Large joint dislocations |
| HP:0007668 | Impaired pursuit initiation and maintenance |
| HP:0032602 | Prominent nucleoli of renal tubular epithelial cells |
| HP:0005009 | Dumbbell-shaped humerus |
| HP:0000947 | Dumbbell-shaped long bone |
| HP:0007667 | Peripheral cystoid retinal degeneration |
| HP:0032601 | Multinucleation of renal tubular epithelial cells |
| HP:0032600 | Renal tubular epithelial cell hyaline droplets |
| HP:0032607 | Renal tubular epithelial cell swelling |
| HP:0005004 | Flattened proximal radial epiphyses |
| HP:0004002 | Flattened radial epiphyses |
| HP:0032606 | Renal tubular epithelial lipofuscin |
| HP:0005005 | Femoral bowing present at birth, straightening with time |
| HP:0032605 | High renal tubular epithelial cell N/C ratio |
| HP:0032604 | Renal tubular epithelial cell mitosis |
| http://purl.obolibrary.org/obo/PATO_0002149 | ivory |
| http://purl.obolibrary.org/obo/PATO_0001788 | increased mass density |
| http://purl.obolibrary.org/obo/PATO_0001164 | dense |
| http://purl.obolibrary.org/obo/MPATH_89 | cardiovascular developmental defect |
| http://purl.obolibrary.org/obo/PATO_0002143 | sloped downward |
| http://purl.obolibrary.org/obo/PATO_0001481 | sloped |
| http://purl.obolibrary.org/obo/MPATH_86 | organ specific developmental defect |
| HP:0005011 | Mesomelic arm shortening |
| HP:0005013 | Dysplastic distal radial epiphyses |
| HP:0002656 | Epiphyseal dysplasia |
| HP:0010597 | Abnormality of the distal radial epiphysis |
| HP:0007675 | Progressive night blindness |
| HP:0005010 | Osteomyelitis leading to amputation due to slow healing fractures |
| HP:0005019 | Diaphyseal thickening |
| HP:0007678 | Lacrimal duct stenosis |
| HP:0007677 | Vitelliform-like macular lesions |
| HP:0005017 | Polyarticular chondrocalcinosis |
| HP:0000934 | Chondrocalcinosis |
| HP:0100685 | Abnormal Sharpey fiber morphology |
| http://purl.obolibrary.org/obo/PATO_0002177 | deviation towards the medial side |
| HP:0007690 | Map-dot-fingerprint corneal dystrophy |
| http://purl.obolibrary.org/obo/PATO_0002176 | deviation towards the lateral side |
| http://purl.obolibrary.org/obo/PATO_0002179 | mislocalised proximally |
| http://purl.obolibrary.org/obo/PATO_0000628 | mislocalised |
| http://purl.obolibrary.org/obo/MPATH_74 | hamartoma |
| HP:0007680 | Depigmented fundus |
| HP:0005025 | Hypoplastic distal humeri |
| http://purl.obolibrary.org/obo/PATO_0002180 | straight |
| http://purl.obolibrary.org/obo/MPATH_70 | fistula |
| HP:0007687 | Unilateral ptosis |
| http://purl.obolibrary.org/obo/PATO_0002182 | molecular quality |
| HP:0007685 | Peripheral retinal avascularization |
| http://purl.obolibrary.org/obo/PATO_0002181 | displaced |
| HP:0005021 | Bilateral elbow dislocations |
| http://purl.obolibrary.org/obo/CL_0008002 | skeletal muscle fiber |
| http://purl.obolibrary.org/obo/CL_0002372 | myotube |
| http://purl.obolibrary.org/obo/CL_0000737 | striated muscle cell |
| http://purl.obolibrary.org/obo/CL_0000187 | muscle cell |
| http://purl.obolibrary.org/obo/CL_0000183 | contractile cell |
| http://purl.obolibrary.org/obo/CL_0000228 | multinucleate cell |
| http://purl.obolibrary.org/obo/CL_0002242 | nucleate cell |
| http://purl.obolibrary.org/obo/CL_0008001 | hematopoietic precursor cell |
| http://purl.obolibrary.org/obo/CL_0000988 | hematopoietic cell |
| HP:0007688 | Undetectable light- and dark-adapted electroretinogram |
| HP:0008323 | Abnormal light- and dark-adapted electroretinogram |
| HP:0005026 | Mesomelic/rhizomelic limb shortening |
| HP:0005028 | Widened proximal tibial metaphyses |
| http://purl.obolibrary.org/obo/PATO_0002169 | split medially |
| http://purl.obolibrary.org/obo/PATO_0001786 | split |
| http://purl.obolibrary.org/obo/MPATH_68 | diverticulum |
| http://purl.obolibrary.org/obo/PATO_0002166 | premature closure |
| http://purl.obolibrary.org/obo/PATO_0000694 | premature |
| http://purl.obolibrary.org/obo/PATO_0002165 | drooping |
| http://purl.obolibrary.org/obo/MPATH_66 | dilatation |
| http://purl.obolibrary.org/obo/MPATH_64 | developmental dysplasia |
| http://purl.obolibrary.org/obo/MPATH_599 | developmental process abnormalities |
| HP:0005033 | Distal ulnar hypoplasia |
| http://purl.obolibrary.org/obo/MPATH_62 | cyst |
| http://purl.obolibrary.org/obo/PATO_0002175 | deviation |
| http://purl.obolibrary.org/obo/PATO_0000060 | spatial pattern |
| HP:0005036 | Unilateral ulnar hypoplasia |
| HP:0007697 | Hypoplasia of the lower eyelids |
| http://purl.obolibrary.org/obo/GO_0071345 | cellular response to cytokine stimulus |
| http://purl.obolibrary.org/obo/GO_0034097 | response to cytokine |
| HP:0005037 | Proximal radio-ulnar synostosis |
| HP:0002974 | Radioulnar synostosis |
| HP:0005039 | Multiple long-bone exostoses |
| HP:0032643 | Renal interstitial non-necrotizing granulomas |
| HP:0032642 | Renal interstitial necrotizing granulomas |
| HP:0032641 | Renal interstitial granulomas |
| HP:0032640 | Elevated circulating CCL18 level |
| http://purl.obolibrary.org/obo/UBERON_0001586 | internal jugular vein |
| http://purl.obolibrary.org/obo/UBERON_0004711 | jugular vein |
| http://purl.obolibrary.org/obo/UBERON_0001585 | anterior vena cava |
| http://purl.obolibrary.org/obo/MPATH_56 | developmental or adult structural defect |
| http://purl.obolibrary.org/obo/PATO_0002198 | quality of a substance |
| http://purl.obolibrary.org/obo/MPATH_55 | developmental and structural abnormality |
| http://purl.obolibrary.org/obo/CHEBI_132142 | 1,4-naphthoquinones |
| http://purl.obolibrary.org/obo/CHEBI_25481 | naphthoquinone |
| http://purl.obolibrary.org/obo/CHEBI_25830 | p-quinones |
| http://purl.obolibrary.org/obo/UBERON_0001580 | levator labii superioris |
| http://purl.obolibrary.org/obo/UBERON_0001582 | buccinator muscle |
| HP:0007621 | Telangiectasia of extensor surfaces |
| HP:0007620 | Cutaneous leiomyoma |
| http://purl.obolibrary.org/obo/UBERON_0001581 | depressor labii inferioris |
| http://purl.obolibrary.org/obo/UBERON_0001584 | left subclavian artery |
| http://purl.obolibrary.org/obo/GO_0071310 | cellular response to organic substance |
| http://purl.obolibrary.org/obo/GO_0070887 | cellular response to chemical stimulus |
| http://purl.obolibrary.org/obo/GO_0051716 | cellular response to stimulus |
| http://purl.obolibrary.org/obo/GO_0010033 | response to organic substance |
| HP:0032647 | Renal tubular epithelial cell apoptosis |
| HP:0032646 | Renal interstitial xanthogranulomatous inflammation |
| http://purl.obolibrary.org/obo/CL_0008024 | pancreatic endocrine cell |
| http://purl.obolibrary.org/obo/CL_0000163 | endocrine cell |
| http://purl.obolibrary.org/obo/CL_0000151 | secretory cell |
| HP:0007623 | Pigmentation anomalies of sun-exposed skin |
| HP:0032645 | Renal interstitial mononuclear cell infiltration |
| HP:0007628 | Mandibular condyle hypoplasia |
| http://purl.obolibrary.org/obo/CL_0008028 | visual system neuron |
| http://purl.obolibrary.org/obo/CL_0000540 | neuron |
| http://purl.obolibrary.org/obo/CL_0000393 | electrically responsive cell |
| http://purl.obolibrary.org/obo/CL_0002319 | neural cell |
| http://purl.obolibrary.org/obo/CL_0000548 | animal cell |
| http://purl.obolibrary.org/obo/CL_0000255 | eukaryotic cell |
| http://purl.obolibrary.org/obo/CL_0000404 | electrically signaling cell |
| http://purl.obolibrary.org/obo/CL_0000211 | electrically active cell |
| HP:0007627 | Mandibular condyle aplasia |
| HP:0032649 | Skewfoot |
| HP:0001763 | Pes planus |
| HP:0007626 | Mandibular osteomyelitis |
| HP:0032648 | Tubularization of Bowman capsule |
| HP:0031264 | Abnormal morphology of Bowman capsule |
| HP:0032632 | Renal papillary necrosis |
| HP:0032631 | Intratubular hemoglobin casts |
| HP:0032630 | Intratubular light-chain casts |
| http://purl.obolibrary.org/obo/UBERON_0001597 | masseter muscle |
| http://purl.obolibrary.org/obo/UBERON_0001599 | stapedius muscle |
| http://purl.obolibrary.org/obo/UBERON_0004113 | muscle of auditory ossicle |
| http://purl.obolibrary.org/obo/UBERON_0001598 | temporalis muscle |
| http://purl.obolibrary.org/obo/UBERON_0001591 | thymic vein |
| http://purl.obolibrary.org/obo/UBERON_0001592 | bronchial vein |
| HP:0032636 | Tubulointerstitial viral infiltration |
| HP:0007634 | Nonarteritic anterior ischemic optic neuropathy |
| HP:0001138 | Optic neuropathy |
| HP:0032634 | Intratubular myoglobin cast |
| HP:0007633 | Bilateral microphthalmos |
| HP:0000568 | Microphthalmia |
| HP:0032633 | Intratubular hyaline casts |
| HP:0032639 | Elevated leukocyte cystine |
| HP:0032638 | Elevated urine mevalonic acid |
| http://purl.obolibrary.org/obo/CL_0008017 | adult skeletal muscle myoblast |
| http://purl.obolibrary.org/obo/CL_0000515 | skeletal muscle myoblast |
| http://purl.obolibrary.org/obo/CL_0000056 | myoblast |
| http://purl.obolibrary.org/obo/CL_0000680 | muscle precursor cell |
| http://purl.obolibrary.org/obo/CL_0000055 | non-terminally differentiated cell |
| http://purl.obolibrary.org/obo/CL_0011115 | precursor cell |
| http://purl.obolibrary.org/obo/CL_0000188 | cell of skeletal muscle |
| http://purl.obolibrary.org/obo/CL_0002371 | somatic cell |
| http://purl.obolibrary.org/obo/CL_0000003 | native cell |
| http://purl.obolibrary.org/obo/CL_0000000 | cell |
| HP:0032637 | Renal interstitial edema |
| HP:0032621 | Hyperchromasia of renal tubular epithelial cells |
| HP:0032620 | Intrarenal abscess |
| http://purl.obolibrary.org/obo/MPATH_36 | calcium deposition |
| http://purl.obolibrary.org/obo/MPATH_555 | mineralisation |
| http://purl.obolibrary.org/obo/MPATH_34 | amyloid deposition |
| http://purl.obolibrary.org/obo/MPATH_33 | intracellular and extracellular accumulation |
| http://purl.obolibrary.org/obo/MPATH_1 | cell and tissue damage |
| http://purl.obolibrary.org/obo/MPATH_603 | pathological anatomical entity |
| http://purl.obolibrary.org/obo/MPATH_31 | emphysema |
| HP:0007643 | Peripheral tractional retinal detachment |
| HP:0007641 | Dyschromatopsia |
| http://purl.obolibrary.org/obo/UBERON_0013588 | fused metatarsal bones 3 and 4 |
| HP:0007647 | Congenital extraocular muscle anomaly |
| HP:0032625 | Intratubular erythrocyte cast |
| HP:0007646 | Absent lower eyelashes |
| HP:0032624 | Intratubular bilirubin casts |
| http://purl.obolibrary.org/obo/UBERON_0013587 | fused metacarpal bones 3 and 4 |
| http://purl.obolibrary.org/obo/UBERON_0013586 | fused metapodial bones 3 and 4 |
| HP:0032622 | Tubular luminal dilatation |
| HP:0032629 | Intratubular dihydroxyadenuria crystals |
| HP:0032628 | Renal intratubular crystals |
| HP:0032627 | Intratubular leukocyte casts |
| HP:0032626 | Intratubular vancomycin casts |
| HP:0032610 | Tubulointerstitial mycobacterial infiltration |
| HP:0032635 | Tubulointerstitial microganismal infiltration |
| http://purl.obolibrary.org/obo/MPATH_28 | atherosclerosis |
| http://purl.obolibrary.org/obo/MPATH_27 | arthrosis |
| http://purl.obolibrary.org/obo/MPATH_25 | tissue specific degenerative process |
| http://purl.obolibrary.org/obo/GO_0034358 | plasma lipoprotein particle |
| http://purl.obolibrary.org/obo/GO_1990777 | lipoprotein particle |
| http://purl.obolibrary.org/obo/GO_0032994 | protein-lipid complex |
| HP:0007650 | Progressive ophthalmoplegia |
| HP:0032619 | Perinephric abscess |
| HP:0007651 | Ectropion of lower eyelids |
| HP:0007658 | Large hyperpigmented retinal spots |
| HP:0032614 | Renal glomerular amyloid deposition |
| HP:0007657 | Diffuse nuclear cataract |
| HP:0100018 | Nuclear cataract |
| HP:0032613 | Renal interstitial amyloid deposits |
| HP:0001917 | Renal amyloidosis |
| HP:0007656 | Lacrimal gland aplasia |
| HP:0032612 | Triphalangeal hallux |
| HP:0010057 | Abnormality of the phalanges of the hallux |
| HP:0007655 | Eversion of lateral third of lower eyelids |
| HP:0000656 | Ectropion |
| HP:0032611 | Renal tubular epithelial cell hemosiderin |
| HP:0032618 | Renal necrosis |
| HP:0032617 | Renal interstitial hemorrhage |
| HP:0032616 | Renal interstitial immunoglobulin deposits |
| HP:0032615 | Abnormal diffusion weighted cerebral MRI morphology |
| HP:0032562 | Tapered sperm head |
| http://purl.obolibrary.org/obo/UBERON_0001549 | dorsal metatarsal vein |
| HP:0032561 | Microcephalic sperm head |
| HP:0012865 | Sperm head anomaly |
| HP:0032560 | Coiled sperm flagella |
| HP:0032566 | Oval macrocytosis |
| HP:0032565 | Vaginal mucosal ulceration |
| HP:0032564 | Ileitis |
| HP:0032563 | Dacryocytosis |
| http://purl.obolibrary.org/obo/UBERON_0001544 | popliteal vein |
| http://purl.obolibrary.org/obo/MPATH_14 | process of degenerative change |
| http://purl.obolibrary.org/obo/MPATH_597 | cell and tissue damage process |
| http://purl.obolibrary.org/obo/MPATH_596 | pathological process |
| http://purl.obolibrary.org/obo/MPATH_0 | pathological entity |
| http://purl.obolibrary.org/obo/UBERON_0001543 | popliteal lymph node |
| http://purl.obolibrary.org/obo/UBERON_0016398 | lymph node of lower limb |
| HP:0032569 | Temporal bossing |
| HP:0032568 | Urinary mulberry cells |
| HP:0032567 | Lipiduria |
| http://purl.obolibrary.org/obo/UBERON_0013526 | otocyst lumen |
| http://purl.obolibrary.org/obo/UBERON_0007473 | lumen of epithelial sac |
| http://purl.obolibrary.org/obo/UBERON_0012467 | enclosed anatomical space |
| http://purl.obolibrary.org/obo/UBERON_0013525 | stomach lumen |
| HP:0032551 | Hemorrhoids |
| HP:0032550 | Howell-Jolly bodies |
| HP:0020080 | Erythrocyte inclusion bodies |
| HP:0032555 | Bounding pulse |
| HP:0032554 | Absent pulse |
| HP:0032553 | Weak pulse |
| HP:0032552 | Abnormal pulse |
| http://purl.obolibrary.org/obo/PR_P26011 | integrin beta-7 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0001555 | digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0001554 | skin of hip |
| http://purl.obolibrary.org/obo/UBERON_0001557 | upper respiratory tract |
| http://purl.obolibrary.org/obo/PR_P26010 | integrin beta-7 (human) |
| http://purl.obolibrary.org/obo/UBERON_0001556 | lower urinary tract |
| http://purl.obolibrary.org/obo/UBERON_0001558 | lower respiratory tract |
| http://purl.obolibrary.org/obo/UBERON_0000072 | proximo-distal subdivision of respiratory tract |
| HP:0032559 | Short sperm flagella |
| HP:0032558 | Absent sperm flagella |
| HP:0012868 | Sperm tail anomaly |
| HP:0012864 | Abnormal sperm morphology |
| HP:0012863 | Abnormal male germ cell morphology |
| HP:0012862 | Abnormal germ cell morphology |
| HP:0032557 | History of bone marrow transplant |
| HP:0032443 | Past medical history |
| HP:0032556 | Circumoral cyanosis |
| HP:0000961 | Cyanosis |
| HP:0001005 | Dermatological manifestations of systemic disorders |
| HP:0032540 | Joint flexor surface localization |
| HP:0032544 | Predominant small joint localization |
| HP:0032543 | Lithoptysis |
| HP:0032016 | Abnormal sputum |
| HP:0032542 | Exacerbated by pregnancy |
| HP:0032541 | Knuckle pad |
| http://purl.obolibrary.org/obo/UBERON_0001564 | mylohyoid muscle |
| http://purl.obolibrary.org/obo/UBERON_0001566 | cricothyroid muscle |
| http://purl.obolibrary.org/obo/UBERON_0006328 | laryngeal intrinsic muscle |
| http://purl.obolibrary.org/obo/UBERON_0001565 | geniohyoid muscle |
| http://purl.obolibrary.org/obo/UBERON_0011151 | jaw depressor muscle |
| http://purl.obolibrary.org/obo/UBERON_0001568 | muscle of larynx |
| http://purl.obolibrary.org/obo/UBERON_0002377 | muscle of neck |
| http://purl.obolibrary.org/obo/UBERON_0001567 | cheek |
| http://purl.obolibrary.org/obo/UBERON_0001562 | digastric muscle group |
| http://purl.obolibrary.org/obo/UBERON_0008571 | suprahyoid muscle |
| http://purl.obolibrary.org/obo/UBERON_0005493 | hyoid muscle |
| http://purl.obolibrary.org/obo/UBERON_0000933 | pharyngeal muscle |
| HP:0032548 | Increased placental thickness |
| HP:0012767 | Abnormal placental size |
| HP:0032547 | Low intraocular pressure |
| HP:0032546 | Abdominal guarding |
| HP:0032545 | Abdominal rigidity |
| HP:0032549 | Persistent asymmetrical tonic neck reflex |
| HP:0032533 | Elevated circulating acetone |
| HP:0032532 | Elevated CSF 4-hydroxybutyric acid concentration |
| HP:0032531 | Elevated CSF gamma-aminobutyric acid concentration |
| HP:0032530 | Decreased succinic semialdehyde dehydrogenase level |
| http://purl.obolibrary.org/obo/UBERON_0001574 | palatoglossus muscle |
| http://purl.obolibrary.org/obo/UBERON_0001577 | facial muscle |
| http://purl.obolibrary.org/obo/UBERON_0001576 | intrinsic muscle of tongue |
| http://purl.obolibrary.org/obo/PR_Q00519 | xanthine dehydrogenase/oxidase (mouse) |
| http://purl.obolibrary.org/obo/PR_000017477 | xanthine dehydrogenase/oxidase |
| http://purl.obolibrary.org/obo/CHEBI_46761 | dipeptide |
| http://purl.obolibrary.org/obo/CHEBI_25676 | oligopeptide |
| http://purl.obolibrary.org/obo/UBERON_0001578 | orbicularis oculi muscle |
| http://purl.obolibrary.org/obo/UBERON_0004277 | eye muscle |
| http://purl.obolibrary.org/obo/UBERON_0001571 | genioglossus muscle |
| http://purl.obolibrary.org/obo/UBERON_0001573 | styloglossus |
| http://purl.obolibrary.org/obo/UBERON_0001572 | hyoglossus muscle |
| http://purl.obolibrary.org/obo/UBERON_0001575 | extrinsic muscle of tongue |
| http://purl.obolibrary.org/obo/UBERON_0000378 | tongue muscle |
| HP:0032537 | Delayed fracture healing |
| HP:0032536 | Increased number of lymph nodes |
| HP:0002733 | Abnormality of the lymph nodes |
| HP:0032535 | Cervical (neck) |
| HP:0032534 | Exacerbated by methylxanthine ingestion |
| HP:0025285 | Aggravated by |
| HP:0032539 | Joint extensor surface localization |
| HP:0032538 | Pretibial dimple |
| http://purl.obolibrary.org/obo/UBERON_0001508 | arch of aorta |
| http://purl.obolibrary.org/obo/UBERON_0001507 | biceps brachii |
| http://purl.obolibrary.org/obo/PATO_0002118 | multiple |
| http://purl.obolibrary.org/obo/PATO_0000470 | increased amount |
| http://purl.obolibrary.org/obo/PATO_0000467 | present |
| http://purl.obolibrary.org/obo/UBERON_0001509 | triceps brachii |
| http://purl.obolibrary.org/obo/UBERON_0004255 | forelimb stylopod muscle |
| http://purl.obolibrary.org/obo/CHEBI_46775 | N-alkylpyrrolidine |
| http://purl.obolibrary.org/obo/CHEBI_50996 | tertiary amino compound |
| HP:0007590 | Aplasia cutis congenita over posterior parietal area |
| HP:0004476 | Aplasia cutis congenita over parietal area |
| HP:0007385 | Aplasia cutis congenita of scalp |
| http://purl.obolibrary.org/obo/PATO_0002112 | perforate |
| http://purl.obolibrary.org/obo/PATO_0002014 | structure, cavities |
| http://purl.obolibrary.org/obo/UBERON_0001503 | dorsal interosseous of manus |
| http://purl.obolibrary.org/obo/UBERON_0001502 | interosseous muscle of manus |
| http://purl.obolibrary.org/obo/UBERON_0014375 | intrinsic muscle of manus |
| http://purl.obolibrary.org/obo/UBERON_0035112 | intrinsic muscle |
| http://purl.obolibrary.org/obo/UBERON_0006508 | interosseous muscle of autopod |
| HP:0007583 | Telangiectasia macularis eruptiva perstans |
| HP:0007581 | Mediosternal, longitudinal streak of hypopigmentation |
| HP:0007535 | Hypopigmented streaks |
| HP:0007588 | Reticular hyperpigmentation |
| HP:0007587 | Numerous pigmented freckles |
| HP:0007586 | Telangiectases producing 'marbled' skin |
| HP:0007585 | Skin fragility with non-scarring blistering |
| HP:0001030 | Fragile skin |
| HP:0007589 | Aplasia cutis congenita on trunk or limbs |
| HP:0001057 | Aplasia cutis congenita |
| HP:0008065 | Aplasia/Hypoplasia of the skin |
| http://purl.obolibrary.org/obo/UBERON_0001517 | skin of elbow |
| HP:0032595 | Renal tubular epithelial cell detachment |
| http://purl.obolibrary.org/obo/UBERON_0001516 | abdominal aorta |
| HP:0032594 | Renal tubular basement membrane denudation |
| HP:0032593 | Myoglobin casts |
| HP:0031199 | Acellular urinary casts |
| HP:0012615 | Cylindruria |
| http://purl.obolibrary.org/obo/UBERON_0001518 | skin of wrist |
| HP:0032592 | Aplasia of the right hemidiaphragm |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0100790 | Hernia |
| HP:0032598 | Blebbing of apical cytoplasm of renal tubular epithelial cells |
| HP:0032597 | Renal tubular epithelial cell sloughing |
| HP:0032596 | Renal tubular epithelial cell cytoplasmic vacuolization |
| http://purl.obolibrary.org/obo/UBERON_0001510 | skin of knee |
| http://purl.obolibrary.org/obo/UBERON_0001511 | skin of leg |
| HP:0032591 | Renal interstitial hemosiderin |
| HP:0032590 | Renal neutrophilic tubulitis |
| http://purl.obolibrary.org/obo/UBERON_0025525 | motor system |
| http://purl.obolibrary.org/obo/UBERON_0023879 | neural system |
| http://purl.obolibrary.org/obo/UBERON_0001514 | descending aorta |
| HP:0007595 | Redundant skin in infancy |
| HP:0007599 | Generalized reticulate brown pigmentation |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0000954 | Single transverse palmar crease |
| HP:0010490 | Abnormality of the palmar creases |
| HP:0007597 | Congenital palmoplantar keratodermia |
| HP:0007596 | Painful subcutaneous lipomas |
| HP:0001031 | Subcutaneous lipoma |
| HP:0001012 | Multiple lipomas |
| http://purl.obolibrary.org/obo/UBERON_0001528 | radio-ulnar joint |
| HP:0032584 | Renal interstitial neutrophil infiltration |
| HP:0032583 | Renal glomerular foam cells |
| HP:0032582 | Renal interstitial foam cells |
| HP:0032588 | Hand apraxia |
| HP:0032587 | Renal interstitial calcium oxalate |
| HP:0032586 | Renal interstitial plasma cell infiltration |
| HP:0032585 | Renal interstitial eosinophil infiltration |
| http://purl.obolibrary.org/obo/CHEBI_19168 | 17-oxo steroid |
| HP:0032580 | Abnormal bulbus cordis morphology |
| http://purl.obolibrary.org/obo/PATO_0002135 | delayed closure |
| http://purl.obolibrary.org/obo/PATO_0000502 | delayed |
| http://purl.obolibrary.org/obo/UBERON_0013508 | thoracic vertebra pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0013509 | lumbar vertebra cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0013506 | cervical vertebra pre-cartilage condensation |
| http://purl.obolibrary.org/obo/PATO_0002142 | bracket |
| http://purl.obolibrary.org/obo/PATO_0002141 | irregular density |
| http://purl.obolibrary.org/obo/PATO_0001019 | mass density |
| http://purl.obolibrary.org/obo/UBERON_0013507 | thoracic vertebra cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0015008 | thoracic vertebra endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0013501 | cloacal sphincter |
| http://purl.obolibrary.org/obo/UBERON_0014783 | cloacal muscle |
| HP:0032589 | Renal lymphocytic tubulitis |
| http://purl.obolibrary.org/obo/UBERON_0013504 | caudal vertebra pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0013505 | cervical vertebra cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0015007 | cervical vertebra endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0013503 | caudal vertebra cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0011094 | vertebra cartilage element |
| http://purl.obolibrary.org/obo/UBERON_2001457 | postcranial axial cartilage |
| HP:0032573 | Elevated urinary cytidine |
| HP:0032571 | Increased oocyte death |
| HP:0032570 | Pontine ischemic lacunes |
| HP:0032325 | Lacunar stroke |
| HP:0002140 | Ischemic stroke |
| HP:0002637 | Cerebral ischemia |
| HP:0009145 | Abnormal cerebral artery morphology |
| HP:0001297 | Stroke |
| HP:0032577 | Clonal T cell receptor rearrangement |
| HP:0032576 | Intracellular accumulation of Dol-PP-GlcNAc2Man5 |
| HP:0032575 | Decreased circulating 12-HETE |
| HP:0032574 | Elevated uridine in urine |
| HP:0032572 | Abnormal urinary nucleobase concentration |
| http://purl.obolibrary.org/obo/UBERON_0001531 | right common carotid artery plus branches |
| http://purl.obolibrary.org/obo/UBERON_0001532 | internal carotid artery |
| http://purl.obolibrary.org/obo/UBERON_0001535 | vertebral artery |
| http://purl.obolibrary.org/obo/UBERON_0002458 | spinal artery |
| http://purl.obolibrary.org/obo/UBERON_0001534 | right subclavian artery |
| http://purl.obolibrary.org/obo/UBERON_0001533 | subclavian artery |
| http://purl.obolibrary.org/obo/PATO_0002124 | laminar |
| http://purl.obolibrary.org/obo/UBERON_0001536 | left common carotid artery plus branches |
| http://purl.obolibrary.org/obo/UBERON_0001530 | common carotid artery plus branches |
| HP:0032579 | Vascular hamartoma |
| http://purl.obolibrary.org/obo/UBERON_0013510 | lumbar vertebra pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015009 | lumbar vertebra endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0011095 | vertebra pre-cartilage condensation |
| HP:0032578 | Third ventricle colloid cyst |
| HP:0010951 | Abnormality of the third ventricle |
| http://purl.obolibrary.org/obo/UBERON_0013514 | space surrounding organism |
| http://purl.obolibrary.org/obo/NBO_0000417 | physiologic nystagmus |
| http://purl.obolibrary.org/obo/NBO_0000416 | vestibulo-ocular reflex |
| http://purl.obolibrary.org/obo/NBO_0000411 | cranial nerve related reflex |
| http://purl.obolibrary.org/obo/NBO_0000389 | reflexive behavior |
| http://purl.obolibrary.org/obo/NBO_0000388 | involuntary movement behavior |
| http://purl.obolibrary.org/obo/NBO_0000403 | voluntary movement behavior |
| http://purl.obolibrary.org/obo/NBO_0000001 | body part movement |
| http://purl.obolibrary.org/obo/NBO_0000338 | kinesthetic behavior |
| http://purl.obolibrary.org/obo/GO_0050882 | voluntary musculoskeletal movement |
| http://purl.obolibrary.org/obo/GO_0050881 | musculoskeletal movement |
| http://purl.obolibrary.org/obo/GO_0050879 | multicellular organismal movement |
| http://purl.obolibrary.org/obo/CHEBI_22727 | benzopyran |
| http://purl.obolibrary.org/obo/CHEBI_38104 | oxacycle |
| http://purl.obolibrary.org/obo/PR_Q61503 | 5'-nucleotidase (mouse) |
| http://purl.obolibrary.org/obo/PR_000001800 | 5'-nucleotidase |
| http://purl.obolibrary.org/obo/NBO_0000420 | bruxism |
| http://purl.obolibrary.org/obo/NBO_0000499 | NREM parasomnia |
| http://purl.obolibrary.org/obo/NBO_0000493 | parasomnia |
| http://purl.obolibrary.org/obo/CHEBI_22744 | benzyl group |
| http://purl.obolibrary.org/obo/CHEBI_33452 | benzylic group |
| http://purl.obolibrary.org/obo/CHEBI_46701 | pyrrolidinemonocarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_46767 | pyrrolidinecarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_38260 | pyrrolidines |
| http://purl.obolibrary.org/obo/CHEBI_20106 | vanillylmandelic acid |
| http://purl.obolibrary.org/obo/CHEBI_35618 | aromatic ether |
| http://purl.obolibrary.org/obo/CHEBI_25698 | ether |
| http://purl.obolibrary.org/obo/CHEBI_49302 | 2-hydroxy monocarboxylic acid |
| HP:0007709 | Band-shaped corneal dystrophy |
| HP:0007708 | Absent inner eyelashes |
| HP:0007707 | Congenital aphakia |
| http://purl.obolibrary.org/obo/GO_1901860 | positive regulation of mitochondrial DNA metabolic process |
| http://purl.obolibrary.org/obo/GO_0051054 | positive regulation of DNA metabolic process |
| http://purl.obolibrary.org/obo/GO_0045935 | positive regulation of nucleobase-containing compound metabolic process |
| http://purl.obolibrary.org/obo/GO_1901859 | negative regulation of mitochondrial DNA metabolic process |
| http://purl.obolibrary.org/obo/GO_0051053 | negative regulation of DNA metabolic process |
| http://purl.obolibrary.org/obo/GO_0045934 | negative regulation of nucleobase-containing compound metabolic process |
| http://purl.obolibrary.org/obo/GO_1901858 | regulation of mitochondrial DNA metabolic process |
| http://purl.obolibrary.org/obo/GO_0051052 | regulation of DNA metabolic process |
| HP:0007705 | Corneal degeneration |
| HP:0007704 | Paroxysmal involuntary eye movements |
| http://purl.obolibrary.org/obo/GO_1901857 | positive regulation of cellular respiration |
| http://purl.obolibrary.org/obo/GO_1901856 | negative regulation of cellular respiration |
| http://purl.obolibrary.org/obo/GO_0043457 | regulation of cellular respiration |
| http://purl.obolibrary.org/obo/GO_0043467 | regulation of generation of precursor metabolites and energy |
| HP:0007710 | Peripheral vitreous opacities |
| HP:0007717 | Chronic irritative conjunctivitis |
| HP:0007716 | Uveal melanoma |
| HP:0002861 | Melanoma |
| HP:0007715 | Weak extraocular muscles |
| http://purl.obolibrary.org/obo/GO_0032092 | positive regulation of protein binding |
| http://purl.obolibrary.org/obo/GO_0051099 | positive regulation of binding |
| HP:0007720 | Flat cornea |
| HP:0100691 | Abnormality of the curvature of the cornea |
| http://purl.obolibrary.org/obo/GO_0032098 | regulation of appetite |
| http://purl.obolibrary.org/obo/GO_0046676 | negative regulation of insulin secretion |
| http://purl.obolibrary.org/obo/GO_0090278 | negative regulation of peptide hormone secretion |
| http://purl.obolibrary.org/obo/GO_0050709 | negative regulation of protein secretion |
| http://purl.obolibrary.org/obo/GO_0002792 | negative regulation of peptide secretion |
| http://purl.obolibrary.org/obo/GO_0051224 | negative regulation of protein transport |
| http://purl.obolibrary.org/obo/GO_1904950 | negative regulation of establishment of protein localization |
| HP:0007721 | Saccular conjunctival dilatations |
| HP:0008054 | Abnormal morphology of the conjunctival vasculature |
| HP:0007728 | Congenital miosis |
| HP:0000616 | Miosis |
| HP:0000615 | Abnormal pupil morphology |
| HP:0007727 | Opacification of the corneal epithelium |
| http://purl.obolibrary.org/obo/GO_0032091 | negative regulation of protein binding |
| http://purl.obolibrary.org/obo/GO_0051100 | negative regulation of binding |
| http://purl.obolibrary.org/obo/GO_0043393 | regulation of protein binding |
| http://purl.obolibrary.org/obo/GO_0051098 | regulation of binding |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0007730 | Iris hypopigmentation |
| HP:0007734 | Enlarged lacrimal glands |
| HP:0007733 | Laterally curved eyebrow |
| HP:0007732 | Lacrimal gland hypoplasia |
| HP:0008038 | Aplastic/hypoplastic lacrimal glands |
| HP:0011482 | Abnormal lacrimal gland morphology |
| HP:0007738 | Uncontrolled eye movements |
| HP:0007737 | Bone spicule pigmentation of the retina |
| http://purl.obolibrary.org/obo/GO_0046661 | male sex differentiation |
| http://www.informatics.jax.org/marker/MGI:103011 | Ccr7 (mouse) |
| http://purl.obolibrary.org/obo/GO_0046621 | negative regulation of organ growth |
| http://purl.obolibrary.org/obo/GO_0048640 | negative regulation of developmental growth |
| http://purl.obolibrary.org/obo/GO_0045926 | negative regulation of growth |
| http://purl.obolibrary.org/obo/GO_0046622 | positive regulation of organ growth |
| http://purl.obolibrary.org/obo/GO_0046620 | regulation of organ growth |
| http://purl.obolibrary.org/obo/GO_0048639 | positive regulation of developmental growth |
| http://purl.obolibrary.org/obo/GO_0048638 | regulation of developmental growth |
| http://purl.obolibrary.org/obo/GO_0045927 | positive regulation of growth |
| http://purl.obolibrary.org/obo/GO_0040008 | regulation of growth |
| http://purl.obolibrary.org/obo/GO_0010694 | positive regulation of alkaline phosphatase activity |
| http://purl.obolibrary.org/obo/GO_0007059 | chromosome segregation |
| HP:0005121 | Posterior scalloping of vertebral bodies |
| http://purl.obolibrary.org/obo/PATO_0002283 | decreased mobility |
| http://purl.obolibrary.org/obo/PATO_0002282 | increased mobility |
| http://purl.obolibrary.org/obo/PATO_0000299 | mobile |
| http://purl.obolibrary.org/obo/PATO_0000004 | mobility |
| HP:0007780 | Cortical pulverulent cataract |
| HP:0010693 | Pulverulent cataract |
| http://purl.obolibrary.org/obo/PATO_0002281 | biscupidate |
| HP:0005129 | Congenital hypertrophy of left ventricle |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0001714 | Ventricular hypertrophy |
| HP:0032724 | Focal impaired awareness tonic seizure |
| HP:0032723 | Focal motor aware seizure with dystonia |
| HP:0032722 | Focal aware tonic seizure |
| HP:0011167 | Focal tonic seizure |
| HP:0032728 | Focal impaired awareness atonic seizure |
| HP:0020220 | Focal atonic seizure |
| HP:0032726 | Focal impaired awareness hyperkinetic seizure |
| http://purl.obolibrary.org/obo/UBERON_0013493 | abdominal fascia |
| http://purl.obolibrary.org/obo/UBERON_0013491 | cervical fascia |
| http://purl.obolibrary.org/obo/UBERON_0008982 | fascia |
| http://purl.obolibrary.org/obo/PATO_0002265 | behavioural activity |
| http://purl.obolibrary.org/obo/PATO_0000186 | behavioral quality |
| http://purl.obolibrary.org/obo/PATO_0001995 | organismal quality |
| http://purl.obolibrary.org/obo/PATO_0002266 | 3-D shape |
| HP:0005132 | Pericardial constriction |
| HP:0007793 | Granular macular appearance |
| HP:0005133 | Right ventricular dilatation |
| http://purl.obolibrary.org/obo/PATO_0002271 | decreased accumulation |
| HP:0007792 | Microsaccadic pursuit |
| HP:0005134 | Absence of the pulmonary valve |
| HP:0007791 | Patchy atrophy of the retinal pigment epithelium |
| HP:0007722 | Retinal pigment epithelial atrophy |
| HP:0032719 | Focal motor impaired awareness seizure with dysarthria/anarthria |
| http://purl.obolibrary.org/obo/CHEBI_68485 | alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp |
| http://purl.obolibrary.org/obo/CHEBI_60948 | alpha-D-Gal-(1->4)-beta-D-Gal-(1->4)-D-Glc |
| http://purl.obolibrary.org/obo/CHEBI_27150 | trisaccharide |
| HP:0007797 | Retinal vascular malformation |
| http://purl.obolibrary.org/obo/PATO_0002270 | increased accumulation |
| http://purl.obolibrary.org/obo/PATO_0002269 | accumulation |
| http://purl.obolibrary.org/obo/PATO_0000141 | structure |
| HP:0007795 | Anterior cortical cataract |
| HP:0032713 | Focal motor impaired awareness seizure with version |
| http://purl.obolibrary.org/obo/GO_0010693 | negative regulation of alkaline phosphatase activity |
| http://purl.obolibrary.org/obo/GO_0010692 | regulation of alkaline phosphatase activity |
| http://purl.obolibrary.org/obo/UBERON_0013498 | vestibulo-cochlear VIII ganglion complex |
| HP:0007799 | Conjunctival whitish salt-like deposits |
| HP:0032710 | Focal aware cognitive seizure with receptive dysphasia/aphasia |
| HP:0005136 | Mitral annular calcification |
| HP:0004382 | Mitral valve calcification |
| HP:0001633 | Abnormal mitral valve morphology |
| HP:0032717 | Focal motor impaired awareness seizure with dystonia |
| HP:0032718 | Focal motor seizure with dystonia |
| HP:0032714 | Focal impaired awareness bilateral motor seizure |
| http://purl.obolibrary.org/obo/GO_0007076 | mitotic chromosome condensation |
| http://purl.obolibrary.org/obo/PATO_0002298 | increased cellular motility |
| http://purl.obolibrary.org/obo/PATO_0002297 | decreased cellular motility |
| http://purl.obolibrary.org/obo/PATO_0001488 | cellular motility |
| http://purl.obolibrary.org/obo/PATO_0001396 | cellular quality |
| HP:0005143 | Anomalous origin of right pulmonary artery from ascending aorta |
| HP:0011660 | Anomalous origin of one pulmonary artery from ascending aorta |
| HP:0032709 | Focal aware cognitive seizure with dysgraphia/agraphia |
| HP:0005144 | Ventricular septal hypertrophy |
| HP:0005145 | Coronary artery stenosis |
| HP:0032708 | Focal aware cognitive seizure with anomia |
| HP:0005146 | Cardiac valve calcification |
| HP:0032707 | Focal aware cognitive seizure with dyslexia/alexia |
| http://purl.obolibrary.org/obo/GO_0071695 | anatomical structure maturation |
| http://purl.obolibrary.org/obo/GO_0021700 | developmental maturation |
| HP:0005147 | Bidirectional ventricular ectopy |
| HP:0032706 | Focal aware cognitive seizure with left-right confusion |
| HP:0005148 | Pulmonary valve defects |
| HP:0032705 | Focal aware cognitive seizure with forced thinking |
| HP:0032704 | Focal aware cognitive seizure with illusion |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2558 | CX3CR1 (human) |
| HP:0005160 | Total anomalous pulmonary venous return |
| HP:0010772 | Anomalous pulmonary venous return |
| http://purl.obolibrary.org/obo/PATO_0002287 | increased elasticity |
| http://purl.obolibrary.org/obo/GO_2000845 | positive regulation of testosterone secretion |
| http://purl.obolibrary.org/obo/PATO_0002288 | decreased elasticity |
| http://purl.obolibrary.org/obo/PATO_0001171 | elastic |
| http://purl.obolibrary.org/obo/PATO_0001031 | elasticity |
| http://purl.obolibrary.org/obo/GO_2000844 | negative regulation of testosterone secretion |
| http://purl.obolibrary.org/obo/GO_2000843 | regulation of testosterone secretion |
| HP:0005155 | Ventricular escape rhythm |
| HP:0004308 | Ventricular arrhythmia |
| HP:0005156 | Hypoplastic left atrium |
| HP:0025579 | Abnormal left atrium morphology |
| HP:0004383 | Hypoplastic left heart |
| HP:0001961 | Hypoplastic heart |
| HP:0045017 | Congenital malformation of the left heart |
| HP:0005157 | Concentric hypertrophic cardiomyopathy |
| HP:0001639 | Hypertrophic cardiomyopathy |
| http://purl.obolibrary.org/obo/PATO_0002290 | aplastic/hypoplastic |
| HP:0005151 | Preductal coarctation of the aorta |
| HP:0012305 | Coarctation of the descending aortic arch |
| HP:0001680 | Coarctation of aorta |
| HP:0005152 | Histiocytoid cardiomyopathy |
| HP:0001638 | Cardiomyopathy |
| http://purl.obolibrary.org/obo/PATO_0002291 | agenesis |
| http://purl.obolibrary.org/obo/PATO_0000462 | absent |
| http://purl.obolibrary.org/obo/PATO_0000070 | amount |
| HP:0030101 | Absent muscle fiber alpha sarcoglycan |
| HP:0030102 | Reduced muscle fiber alpha sarcoglycan |
| HP:0030100 | Abnormal muscle fiber alpha sarcoglycan |
| http://purl.obolibrary.org/obo/GO_0044089 | positive regulation of cellular component biogenesis |
| HP:0032761 | Focal aware autonomic seizure with pallor/flushing |
| http://purl.obolibrary.org/obo/GO_0044087 | regulation of cellular component biogenesis |
| http://purl.obolibrary.org/obo/GO_0032024 | positive regulation of insulin secretion |
| http://purl.obolibrary.org/obo/GO_0090277 | positive regulation of peptide hormone secretion |
| http://purl.obolibrary.org/obo/GO_0050714 | positive regulation of protein secretion |
| http://purl.obolibrary.org/obo/GO_0051222 | positive regulation of protein transport |
| http://purl.obolibrary.org/obo/GO_1904951 | positive regulation of establishment of protein localization |
| http://purl.obolibrary.org/obo/GO_0002793 | positive regulation of peptide secretion |
| http://purl.obolibrary.org/obo/GO_0050796 | regulation of insulin secretion |
| http://purl.obolibrary.org/obo/GO_0050708 | regulation of protein secretion |
| http://purl.obolibrary.org/obo/GO_0051223 | regulation of protein transport |
| http://purl.obolibrary.org/obo/GO_0070201 | regulation of establishment of protein localization |
| http://purl.obolibrary.org/obo/GO_0090276 | regulation of peptide hormone secretion |
| http://purl.obolibrary.org/obo/GO_0002791 | regulation of peptide secretion |
| http://purl.obolibrary.org/obo/GO_0090087 | regulation of peptide transport |
| http://purl.obolibrary.org/obo/UBERON_0001465 | knee |
| http://purl.obolibrary.org/obo/UBERON_0001464 | hip |
| http://purl.obolibrary.org/obo/UBERON_0001467 | shoulder |
| http://purl.obolibrary.org/obo/UBERON_0001469 | sternoclavicular joint |
| http://purl.obolibrary.org/obo/UBERON_0001468 | intervertebral joint |
| http://purl.obolibrary.org/obo/UBERON_0001461 | elbow |
| http://purl.obolibrary.org/obo/UBERON_0001460 | arm |
| http://purl.obolibrary.org/obo/UBERON_0006058 | multi-limb segment region |
| http://purl.obolibrary.org/obo/GO_0071674 | mononuclear cell migration |
| http://purl.obolibrary.org/obo/GO_0050900 | leukocyte migration |
| http://purl.obolibrary.org/obo/GO_0016477 | cell migration |
| http://purl.obolibrary.org/obo/GO_0048870 | cell motility |
| http://purl.obolibrary.org/obo/GO_0040011 | locomotion |
| http://purl.obolibrary.org/obo/UBERON_0001463 | manual digit 1 |
| HP:0007740 | Long eyelashes in irregular rows |
| HP:0030107 | Reduced muscle fiber beta sarcoglycan |
| http://purl.obolibrary.org/obo/GO_0071676 | negative regulation of mononuclear cell migration |
| http://purl.obolibrary.org/obo/GO_0002686 | negative regulation of leukocyte migration |
| http://purl.obolibrary.org/obo/GO_0030336 | negative regulation of cell migration |
| http://purl.obolibrary.org/obo/GO_2000146 | negative regulation of cell motility |
| http://purl.obolibrary.org/obo/GO_0051271 | negative regulation of cellular component movement |
| http://purl.obolibrary.org/obo/GO_0040013 | negative regulation of locomotion |
| HP:0032768 | Focal aware autonomic seizure with pupillary dilation/constriction |
| HP:0030108 | Reduced muscle fiber gamma sarcoglycan |
| HP:0030109 | Absent muscle fiber gamma sarcoglycan |
| http://purl.obolibrary.org/obo/GO_0071677 | positive regulation of mononuclear cell migration |
| http://purl.obolibrary.org/obo/GO_0071675 | regulation of mononuclear cell migration |
| http://purl.obolibrary.org/obo/GO_0002687 | positive regulation of leukocyte migration |
| http://purl.obolibrary.org/obo/GO_0030335 | positive regulation of cell migration |
| http://purl.obolibrary.org/obo/GO_2000147 | positive regulation of cell motility |
| http://purl.obolibrary.org/obo/GO_0051272 | positive regulation of cellular component movement |
| http://purl.obolibrary.org/obo/GO_0040017 | positive regulation of locomotion |
| http://purl.obolibrary.org/obo/GO_0002685 | regulation of leukocyte migration |
| http://purl.obolibrary.org/obo/GO_0030334 | regulation of cell migration |
| http://purl.obolibrary.org/obo/GO_2000145 | regulation of cell motility |
| http://purl.obolibrary.org/obo/GO_0040012 | regulation of locomotion |
| http://purl.obolibrary.org/obo/GO_0051270 | regulation of cellular component movement |
| HP:0030104 | Abnormal muscle fiber gamma sarcoglycan |
| HP:0007747 | Monocular horizontal nystagmus |
| HP:0032769 | Focal aware autonomic seizure with hypoventilation/hyperventilation/altered respiration |
| HP:0030106 | Absent muscle fiber beta sarcoglycan |
| HP:0030103 | Abnormal muscle fiber beta sarcoglycan |
| HP:0032753 | Focal impaired awareness emotional seizure with agitation |
| HP:0032752 | Focal impaired awareness emotional seizure with fear/anxiety/panic |
| http://purl.obolibrary.org/obo/GO_0007088 | regulation of mitotic nuclear division |
| http://purl.obolibrary.org/obo/GO_0051783 | regulation of nuclear division |
| HP:0032751 | Focal impaired awareness emotional seizure with crying |
| HP:0032750 | Focal impaired awareness emotional seizure with laughing |
| http://purl.obolibrary.org/obo/UBERON_0001476 | deltoid |
| http://purl.obolibrary.org/obo/UBERON_0001479 | sesamoid bone |
| http://purl.obolibrary.org/obo/UBERON_0013631 | sesamoid element |
| http://purl.obolibrary.org/obo/UBERON_0010911 | ossicle |
| http://purl.obolibrary.org/obo/UBERON_0001470 | glenohumeral joint |
| http://purl.obolibrary.org/obo/GO_0032042 | mitochondrial DNA metabolic process |
| http://purl.obolibrary.org/obo/GO_0006259 | DNA metabolic process |
| http://purl.obolibrary.org/obo/GO_0090304 | nucleic acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006139 | nucleobase-containing compound metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0001472 | vaginal venous plexus |
| http://purl.obolibrary.org/obo/UBERON_0001471 | skin of prepuce of penis |
| HP:0007750 | Hypoplasia of the fovea |
| HP:0008060 | Aplasia/Hypoplasia of the fovea |
| HP:0008059 | Aplasia/Hypoplasia of the macula |
| HP:0032757 | Focal aware hemiclonic seizure |
| HP:0007755 | Juvenile epithelial corneal dystrophy |
| HP:0200020 | Corneal erosion |
| http://purl.obolibrary.org/obo/UBERON_0013455 | spheno-petrosal fissure |
| HP:0032758 | Focal aware myoclonic seizure |
| http://purl.obolibrary.org/obo/GO_0044062 | regulation of excretion |
| HP:0032742 | Focal aware emotional seizure with pleasure |
| HP:0032741 | Focal aware emotional seizure with paranoia |
| http://purl.obolibrary.org/obo/GO_0044065 | regulation of respiratory system process |
| http://purl.obolibrary.org/obo/GO_0043576 | regulation of respiratory gaseous exchange |
| http://purl.obolibrary.org/obo/UBERON_0001486 | hip joint |
| http://purl.obolibrary.org/obo/UBERON_0001488 | ankle joint |
| HP:0007760 | Crystalline corneal dystrophy |
| HP:0005100 | Premature birth following premature rupture of fetal membranes |
| HP:0001788 | Premature rupture of membranes |
| HP:0005101 | High-frequency hearing impairment |
| HP:0005102 | Cochlear degeneration |
| HP:0000375 | Abnormal cochlea morphology |
| http://purl.obolibrary.org/obo/UBERON_0001483 | skin of shoulder |
| http://purl.obolibrary.org/obo/UBERON_0001485 | knee joint |
| http://purl.obolibrary.org/obo/UBERON_0001484 | articular capsule |
| HP:0007761 | Pericentral scotoma |
| HP:0007768 | Central retinal vessel vascular tortuosity |
| HP:0000631 | Retinal arterial tortuosity |
| HP:0012841 | Retinal vascular tortuosity |
| HP:0032745 | Focal aware emotional seizure with laughing |
| HP:0010821 | Focal emotional seizure with laughing |
| HP:0007766 | Optic disc hypoplasia |
| HP:0008058 | Aplasia/Hypoplasia of the optic nerve |
| HP:0032744 | Focal aware emotional seizure with agitation |
| HP:0032727 | Focal emotional seizure with agitation |
| HP:0005109 | Abnormality of the Achilles tendon |
| HP:0001430 | Abnormality of the calf musculature |
| HP:0007765 | Deep anterior chamber |
| HP:0032743 | Focal aware emotional seizure with crying |
| HP:0010820 | Focal emotional seizure with crying |
| HP:0005103 | Calcification of the auricular cartilage |
| HP:3000022 | Abnormality of cartilage of external ear |
| HP:0032749 | Focal impaired awareness emotional seizure with paranoia |
| HP:0005104 | Hypoplastic nasal septum |
| HP:0032748 | Focal impaired awareness emotional seizure with anger |
| HP:0032747 | Focal impaired awareness emotional seizure with pleasure |
| HP:0032729 | Focal emotional seizure with pleasure |
| HP:0032746 | Focal impaired awareness emotional seizure |
| HP:0032731 | Focal aware hyperkinetic seizure |
| HP:0011174 | Focal hyperkinetic seizure |
| HP:0032730 | Focal impaired awareness myoclonic seizure |
| HP:0011166 | Focal myoclonic seizure |
| http://purl.obolibrary.org/obo/UBERON_0013472 | upper esophagus |
| http://purl.obolibrary.org/obo/UBERON_0001497 | muscle of pelvic girdle |
| http://purl.obolibrary.org/obo/UBERON_0001499 | muscle of arm |
| HP:0005110 | Atrial fibrillation |
| HP:0001692 | Atrial arrhythmia |
| http://purl.obolibrary.org/obo/UBERON_0001490 | elbow joint |
| http://purl.obolibrary.org/obo/GO_0032060 | bleb assembly |
| http://purl.obolibrary.org/obo/GO_0120031 | plasma membrane bounded cell projection assembly |
| HP:0007770 | Hypoplasia of the retina |
| HP:0008061 | Aplasia/Hypoplasia of the retina |
| HP:0008057 | Aplasia/Hypoplasia affecting the fundus |
| HP:0005112 | Abdominal aortic aneurysm |
| http://purl.obolibrary.org/obo/UBERON_0001492 | radial nerve |
| HP:0005113 | Aortic arch aneurysm |
| HP:0012727 | Thoracic aortic aneurysm |
| HP:0004942 | Aortic aneurysm |
| http://purl.obolibrary.org/obo/UBERON_0001491 | wrist joint |
| http://purl.obolibrary.org/obo/UBERON_0001493 | axillary nerve |
| HP:0007774 | Hypoplasia of the ciliary body |
| HP:0012776 | Abnormal ciliary body morphology |
| http://purl.obolibrary.org/obo/UBERON_0001496 | ascending aorta |
| http://purl.obolibrary.org/obo/UBERON_0001515 | thoracic aorta |
| HP:0007772 | Impaired smooth pursuit |
| HP:0007779 | Anterior segment of eye aplasia |
| HP:0032735 | Focal aware emotional seizure with anger |
| http://purl.obolibrary.org/obo/UBERON_0013479 | lung endothelium |
| HP:0007778 | Posterior retinal neovascularization |
| HP:0007777 | Chorioretinal scar |
| HP:0100699 | Scarring |
| HP:0032733 | Focal motor aware seizure with dysarthria/anarthria |
| HP:0032720 | Focal motor seizure with dysarthria/anarthria |
| HP:0007776 | Sparse lower eyelashes |
| HP:0032732 | Focal motor aware seizure with paresis/paralysis |
| HP:0005115 | Supraventricular arrhythmia |
| HP:0032738 | Focal aware emotional seizure with fear/anxiety/panic |
| HP:0032734 | Focal aware emotional seizure |
| HP:0032739 | Focal emotional seizure with fear/anxiety/panic |
| HP:0032737 | Focal emotional seizure with paranoia |
| HP:0005117 | Elevated diastolic blood pressure |
| HP:0032263 | Increased blood pressure |
| HP:0032736 | Focal emotional seizure with anger |
| HP:0025613 | Focal emotional seizure |
| HP:0030022 | Question mark ear |
| HP:0030023 | Quelprud nodule |
| http://purl.obolibrary.org/obo/UBERON_0001428 | intermedium |
| HP:0030024 | Pretragal ectopia |
| HP:0030025 | Auricular pit |
| HP:0032686 | Focal aware cognitive seizure with memory impairment |
| HP:0030021 | Auricular tag |
| HP:0032684 | Focal aware cognitive seizure with auditory agnosia |
| http://purl.obolibrary.org/obo/UBERON_0001421 | pectoral girdle region |
| HP:0005092 | Streaky metaphyseal sclerosis |
| http://purl.obolibrary.org/obo/UBERON_0001423 | radius bone |
| http://purl.obolibrary.org/obo/UBERON_0015001 | radius endochondral element |
| HP:0005093 | Absent proximal radial epiphyses |
| http://purl.obolibrary.org/obo/UBERON_0001422 | facial lymphatic vessel |
| http://purl.obolibrary.org/obo/UBERON_0001425 | pectoral lymphatic vessel |
| http://purl.obolibrary.org/obo/UBERON_0001424 | ulna |
| http://purl.obolibrary.org/obo/UBERON_0015003 | ulna endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001427 | radiale |
| http://purl.obolibrary.org/obo/UBERON_0001480 | proximal carpal bone |
| http://purl.obolibrary.org/obo/GO_0009636 | response to toxic substance |
| HP:0005090 | Lateral femoral bowing |
| HP:0005084 | Anterior radial head dislocation |
| HP:0005085 | Limited knee flexion/extension |
| HP:0006389 | Limited knee flexion |
| HP:0005086 | Knee osteoarthritis |
| HP:0032688 | Focal aware cognitive seizure with dissociation |
| HP:0030026 | Squared superior portion of helix |
| HP:0011039 | Abnormality of the helix |
| HP:0030028 | Absent nasal cartilage |
| HP:0030027 | Abnormality of the nasal cartilage |
| HP:0030029 | Splayed fingers |
| HP:0030011 | Imperforate hymen |
| HP:0032672 | Autonomic status epilepticus |
| HP:0032670 | Tonic status epilepticus |
| HP:0032676 | Chronic cutaneous wound |
| HP:0032675 | Acute cutaneous wound |
| HP:0032674 | Cutaneous wound |
| HP:0030010 | Hydrometrocolpos |
| http://purl.obolibrary.org/obo/UBERON_0001432 | distal carpal bone 3 |
| http://purl.obolibrary.org/obo/UBERON_0001431 | distal carpal bone 2 |
| http://purl.obolibrary.org/obo/UBERON_0001434 | skeletal system |
| http://purl.obolibrary.org/obo/UBERON_0001433 | distal carpal bone 4 |
| http://purl.obolibrary.org/obo/UBERON_0001438 | metaphysis |
| HP:0005099 | Severe hydrops fetalis |
| HP:0001789 | Hydrops fetalis |
| http://purl.obolibrary.org/obo/GO_0009617 | response to bacterium |
| http://purl.obolibrary.org/obo/CHEBI_32457 | cysteinate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_32458 | cysteinium |
| HP:0005096 | Distal femoral bowing |
| HP:0002980 | Femoral bowing |
| HP:0002979 | Bowing of the legs |
| http://purl.obolibrary.org/obo/UBERON_0001430 | distal carpal bone 1 |
| http://purl.obolibrary.org/obo/UBERON_0001481 | distal carpal bone |
| http://purl.obolibrary.org/obo/UBERON_0001435 | carpal bone |
| http://purl.obolibrary.org/obo/CHEBI_32456 | cysteinate(1-) |
| http://purl.obolibrary.org/obo/CHEBI_63470 | sulfur-containing amino-acid anion |
| HP:0030019 | Increased female libido |
| HP:0032678 | Eyelid myoclonia seizure |
| HP:0002123 | Generalized myoclonic seizure |
| http://purl.obolibrary.org/obo/UBERON_0013411 | cranial cavity |
| HP:0030015 | Female anorgasmia |
| HP:0030016 | Dyspareunia |
| HP:0030017 | Vaginismus |
| HP:0030018 | Decreased female libido |
| HP:0030014 | Female sexual dysfunction |
| HP:0030000 | EMG: repetitive nerve stimulation abnormality |
| HP:0032661 | Generalized convulsive status epilepticus |
| HP:0025190 | Bilateral tonic-clonic seizure with generalized onset |
| HP:0030002 | Nocturnal lagophthalmos |
| HP:0030003 | Paralytic lagophthalmos |
| HP:0032665 | Repeated focal motor seizures |
| HP:0032664 | Adversive status epilepticus |
| HP:0032662 | Focal-onset seizure evolving into bilateral convulsive status epilepticus |
| HP:0032660 | Convulsive status epilepticus |
| HP:0002069 | Bilateral tonic-clonic seizure |
| http://purl.obolibrary.org/obo/UBERON_0001443 | chest |
| http://purl.obolibrary.org/obo/UBERON_0009569 | subdivision of trunk |
| http://purl.obolibrary.org/obo/UBERON_0001442 | skeleton of manus |
| http://purl.obolibrary.org/obo/UBERON_0001445 | skeleton of pes |
| http://purl.obolibrary.org/obo/UBERON_0006717 | autopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_0001446 | fibula |
| http://purl.obolibrary.org/obo/UBERON_0015013 | fibula endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0004251 | hindlimb zeugopod bone |
| http://purl.obolibrary.org/obo/PATO_0002212 | slender |
| http://purl.obolibrary.org/obo/NBO_0000712 | hypoglycemia induced seizure |
| http://purl.obolibrary.org/obo/GO_0022603 | regulation of anatomical structure morphogenesis |
| http://purl.obolibrary.org/obo/GO_0022601 | menstrual cycle phase |
| http://purl.obolibrary.org/obo/UBERON_0001441 | hindlimb skeleton |
| http://purl.obolibrary.org/obo/UBERON_0007273 | pelvic appendage skeleton |
| http://purl.obolibrary.org/obo/UBERON_0001440 | forelimb skeleton |
| http://purl.obolibrary.org/obo/UBERON_0007272 | pectoral appendage skeleton |
| http://purl.obolibrary.org/obo/UBERON_0004381 | skeleton of limb |
| http://purl.obolibrary.org/obo/UBERON_0011582 | paired limb/fin skeleton |
| HP:0030008 | Cervical agenesis |
| HP:0032669 | Myoclonic status epilepticus with coma |
| http://purl.obolibrary.org/obo/UBERON_0013424 | anatomical point connecting sagittal and lambdoidal sutures |
| http://purl.obolibrary.org/obo/UBERON_0006983 | anatomical point |
| HP:0030009 | Cervical insufficiency |
| HP:0032668 | Myoclonic status epilepticus without coma |
| HP:0032667 | Myoclonic status epilepticus |
| HP:0032666 | Hyperkinetic status epilepticus |
| HP:0030004 | Cicatricial lagophthalmos |
| HP:0030001 | Lagopthalmos |
| HP:0030005 | Capillary leak |
| HP:0025018 | Abnormal capillary physiology |
| HP:0030007 | EMG: positive sharp waves |
| http://purl.obolibrary.org/obo/GO_0010623 | programmed cell death involved in cell development |
| HP:0032650 | Elevated CSF glial fibrillary acidic protein level |
| HP:0032654 | Impaired flow-mediated arterial dilatation |
| HP:0032653 | Elevated lactate:pyruvate ratio |
| HP:0032652 | Elevated CSF chitotriosidase 1 level |
| HP:0032651 | Elevated CSF chitinase-3-like protein 1 level |
| http://purl.obolibrary.org/obo/UBERON_0001456 | face |
| http://purl.obolibrary.org/obo/UBERON_0001458 | skin of lip |
| http://purl.obolibrary.org/obo/UBERON_0001457 | skin of eyelid |
| http://purl.obolibrary.org/obo/UBERON_0001459 | skin of external ear |
| http://purl.obolibrary.org/obo/NBO_0000702 | atypical absence seizure |
| http://purl.obolibrary.org/obo/UBERON_0001450 | calcaneus |
| http://purl.obolibrary.org/obo/UBERON_0015014 | calcaneum endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0011679 | proximal tarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0014395 | proximal mesopodial bone |
| http://purl.obolibrary.org/obo/UBERON_0001452 | distal tarsal bone 1 |
| http://purl.obolibrary.org/obo/UBERON_0010721 | distal tarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0018102 | distal mesopodial bone |
| http://purl.obolibrary.org/obo/UBERON_0001451 | navicular bone of pes |
| http://purl.obolibrary.org/obo/UBERON_0012131 | centrale |
| http://purl.obolibrary.org/obo/UBERON_0001447 | tarsal bone |
| HP:0032657 | Elevated circulating lyso-globotriaosylsphingosine concentration |
| HP:0032656 | Febrile status epilepticus |
| HP:0011172 | Complex febrile seizure |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0032655 | Decreased adipose tissue tocopherol level |
| HP:0032659 | Non-convulsive status epilepticus with coma |
| HP:0030066 | Ependymoblastoma |
| HP:0030068 | Olfactory esthesioneuroblastoma |
| HP:0030069 | Primary central nervous system lymphoma |
| HP:0030062 | Craniopharyngioma |
| HP:0030064 | Neurocytoma |
| HP:0005050 | Anterolateral radial head dislocation |
| HP:0005045 | Diaphyseal cortical sclerosis |
| HP:0005041 | Irregular capital femoral epiphysis |
| HP:0006361 | Irregular femoral epiphysis |
| HP:0005042 | Irregular, rachitic-like metaphyses |
| HP:0005043 | Proximal humeral metaphyseal irregularity |
| HP:0003913 | Humeral metaphyseal irregularity |
| HP:0003850 | Upper-limb metaphyseal irregularity |
| HP:0005048 | Synostosis of carpal bones |
| HP:0030055 | Hyperconvex toenail |
| HP:0001795 | Hyperconvex nail |
| HP:0030056 | Uncombable hair |
| HP:0030058 | Sickled erythrocytes |
| HP:0030051 | Tip-toe gait |
| HP:0030052 | Inguinal freckling |
| HP:0001480 | Freckling |
| HP:0030053 | Stiff skin |
| HP:0030054 | Perifollicular fibrosis |
| HP:0031285 | Abnormal perifollicular morphology |
| HP:0005060 | Limited elbow flexion/extension |
| HP:0006376 | Limited elbow flexion |
| HP:0030050 | Narcolepsy |
| http://purl.obolibrary.org/obo/GO_0007006 | mitochondrial membrane organization |
| http://purl.obolibrary.org/obo/GO_0007005 | mitochondrion organization |
| http://purl.obolibrary.org/obo/GO_0034613 | cellular protein localization |
| http://purl.obolibrary.org/obo/GO_0070727 | cellular macromolecule localization |
| HP:0005054 | Metaphyseal spurs |
| HP:0030059 | Mitochondrial depletion |
| HP:0005059 | Arthralgia/arthritis |
| HP:0002829 | Arthralgia |
| HP:0030045 | Serpentine fibula |
| HP:0030046 | Hypoglycosylation of alpha-dystroglycan |
| http://purl.obolibrary.org/obo/GO_0010677 | negative regulation of cellular carbohydrate metabolic process |
| http://purl.obolibrary.org/obo/GO_0045912 | negative regulation of carbohydrate metabolic process |
| HP:0030040 | Fused lumbar vertebrae |
| HP:0030041 | Schmorl's node |
| HP:0030042 | Incomplete ossification of pubis |
| HP:0009105 | Abnormal ossification of the pubic bone |
| HP:0009106 | Abnormal pelvis bone ossification |
| HP:0030043 | Hip subluxation |
| http://purl.obolibrary.org/obo/PATO_0002257 | multicuspidate |
| http://purl.obolibrary.org/obo/PATO_0001973 | cuspidate |
| http://purl.obolibrary.org/obo/PATO_0001500 | tapered |
| http://purl.obolibrary.org/obo/PATO_0001419 | sharp |
| http://purl.obolibrary.org/obo/PATO_0000944 | sharpness |
| HP:0005070 | Proximal radial head dislocation |
| http://purl.obolibrary.org/obo/GO_0007036 | vacuolar calcium ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0006874 | cellular calcium ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0072503 | cellular divalent inorganic cation homeostasis |
| http://purl.obolibrary.org/obo/GO_0006875 | cellular metal ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0055074 | calcium ion homeostasis |
| HP:0005072 | Hyperextensibility at wrists |
| http://purl.obolibrary.org/obo/PATO_0002254 | flattened |
| http://purl.obolibrary.org/obo/PATO_0001591 | curvature |
| http://purl.obolibrary.org/obo/PATO_0002255 | grooved |
| http://purl.obolibrary.org/obo/PATO_0000150 | texture |
| HP:0005066 | Cone-shaped epiphyses fused within their metaphyses |
| HP:0010579 | Cone-shaped epiphysis |
| HP:0005067 | Proximal fibular overgrowth |
| HP:0010594 | Abnormality of the proximal fibular epiphysis |
| HP:0010593 | Abnormality of fibular epiphyses |
| HP:0005068 | Absent styloid process of ulna |
| HP:0004035 | Abnormality of the styloid process of ulna |
| HP:0010600 | Abnormality of the distal ulnar epiphysis |
| HP:0004037 | Abnormality of the ulnar epiphyses |
| HP:0005069 | Rhizo-meso-acromelic limb shortening |
| HP:0008905 | Rhizomelia |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0005063 | Fragmented, irregular epiphyses |
| HP:0010582 | Irregular epiphyses |
| HP:0100168 | Fragmented epiphyses |
| HP:0030048 | Colpocephaly |
| HP:0030047 | Abnormality of lateral ventricle |
| HP:0030049 | Brain abscess |
| HP:0011450 | Unusual CNS infection |
| HP:0032158 | Unusual infection by anatomical site |
| HP:0030033 | Small finger |
| http://purl.obolibrary.org/obo/UBERON_0001418 | skin of thorax |
| HP:0030034 | Diffuse glomerular basement membrane lamellation |
| http://purl.obolibrary.org/obo/UBERON_0001417 | skin of neck |
| HP:0030035 | Struvite nephrolithiasis |
| HP:0000787 | Nephrolithiasis |
| HP:0030036 | Isothenuria |
| HP:0030030 | Absent ray |
| HP:0030031 | Small toe |
| HP:0030032 | Partial absence of foot |
| http://purl.obolibrary.org/obo/PATO_0002246 | decreased force |
| HP:0032690 | Focal aware cognitive seizure with dyscalculia/acalculia |
| http://purl.obolibrary.org/obo/PATO_0002245 | increased force |
| http://purl.obolibrary.org/obo/PATO_0001035 | force |
| http://purl.obolibrary.org/obo/UBERON_0001416 | skin of abdomen |
| http://purl.obolibrary.org/obo/UBERON_0001415 | skin of pelvis |
| HP:0030037 | Bifid ureter |
| HP:0000073 | Ureteral duplication |
| HP:0030039 | Fused thoracic vertebrae |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan |
| HP:0030095 | Reduced muscle collagen VI |
| HP:0030097 | Absent muscle dystrophin expression |
| HP:0030098 | Reduced muscle dystrophin expression |
| HP:0030096 | Abnormal muscle fiber dystrophin expression |
| HP:0030091 | Absent muscle fiber merosin |
| HP:0030092 | Reduced muscle fiber merosin |
| HP:0030094 | Reduced muscle fiber laminin beta 1 |
| HP:0030093 | Abnormal muscle fiber laminin beta 1 |
| HP:0030090 | Abnormal muscle fiber merosin expression |
| http://purl.obolibrary.org/obo/NBO_0000767 | memory behavior behavior |
| http://purl.obolibrary.org/obo/NBO_0000765 | learning and/or memory behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000762 | copulation phenotype |
| HP:0030088 | Increased serum testosterone level |
| HP:0030086 | Reduced CSF lactate |
| HP:0030085 | Abnormal CSF lactate level |
| HP:0030080 | Burkitt lymphoma |
| HP:0030081 | Punctate periventricular T2 hyperintense foci |
| HP:0002518 | Abnormality of the periventricular white matter |
| HP:0002352 | Leukoencephalopathy |
| http://purl.obolibrary.org/obo/PR_P53566 | CCAAT/enhancer-binding protein alpha (mouse) |
| http://purl.obolibrary.org/obo/PR_000005307 | CCAAT/enhancer-binding protein alpha |
| HP:0030082 | Abnormal drinking behavior |
| HP:0030083 | Salt craving |
| http://purl.obolibrary.org/obo/PR_P41597 | C-C chemokine receptor type 2 (human) |
| http://purl.obolibrary.org/obo/PR_000001199 | C-C chemokine receptor type 2 |
| HP:0030077 | Bronchial neoplasm |
| HP:0100552 | Neoplasm of the tracheobronchial system |
| HP:0030078 | Lung adenocarcinoma |
| HP:0030079 | Cervix cancer |
| HP:0010784 | Uterine neoplasm |
| HP:0032241 | Cervical neoplasm |
| HP:0030074 | Chemodectoma |
| HP:0030075 | Ductal carcinoma in situ |
| HP:0030076 | Lobular carcinoma in situ |
| HP:0030071 | Medulloepithelioma |
| HP:0030070 | Central primitive neuroectodermal tumor |
| HP:0030072 | Paranasal sinus neoplasm |
| HP:0012720 | Neoplasm of the nose |
| HP:0100630 | Neoplasia of the nasopharynx |
| http://purl.obolibrary.org/obo/NBO_0000739 | dacrystic epilepsy |
| http://purl.obolibrary.org/obo/NBO_0000738 | gelastic epilepsy |
| http://purl.obolibrary.org/obo/NBO_0000737 | photostimulation induced seizure |
| http://purl.obolibrary.org/obo/NBO_0000735 | hypocalcemia induced seizure |
| http://purl.obolibrary.org/obo/NBO_0000731 | hemiclonic seizure |
| http://www.informatics.jax.org/marker/MGI:97762 | Prl (mouse) |
| http://purl.obolibrary.org/obo/NBO_0000758 | sexual activity phenotype |
| http://purl.obolibrary.org/obo/GO_0009615 | response to virus |
| http://purl.obolibrary.org/obo/GO_0051707 | response to other organism |
| http://purl.obolibrary.org/obo/GO_0043207 | response to external biotic stimulus |
| http://purl.obolibrary.org/obo/NBO_0000756 | mating behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000755 | reproductive behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000754 | rapid eye movement sleep phenotype |
| http://purl.obolibrary.org/obo/NBO_0000419 | sleeping behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000474 | circadian behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000473 | rhythmic behavior phenotype |
| http://purl.obolibrary.org/obo/GO_0009607 | response to biotic stimulus |
| http://purl.obolibrary.org/obo/NBO_0000751 | perception behavior by means |
| http://purl.obolibrary.org/obo/CHEBI_32440 | alaninium |
| http://purl.obolibrary.org/obo/CHEBI_32439 | alaninate |
| http://purl.obolibrary.org/obo/NBO_0000741 | aggressive behavior by means |
| http://purl.obolibrary.org/obo/NBO_0000015 | aggressive behavior |
| http://purl.obolibrary.org/obo/PR_Q63994 | myeloid cell surface antigen CD33 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001892 | CD33 molecule |
| HP:0007822 | Central retinal exudate |
| HP:0007820 | Lacrimal punctal atresia |
| HP:0007827 | Nodular corneal dystrophy |
| HP:0011494 | Generalized opacification of the cornea |
| HP:0007824 | Total ophthalmoplegia |
| http://purl.obolibrary.org/obo/PR_000048127 | PR:000048127 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P10721 | mast/stem cell growth factor receptor Kit (human) |
| http://purl.obolibrary.org/obo/PR_000002065 | mast/stem cell growth factor receptor |
| HP:0007830 | Adult-onset night blindness |
| HP:0007834 | Progressive cataract |
| HP:0007833 | Anterior chamber synechiae |
| HP:0007832 | Pigmentation of the sclera |
| HP:0007831 | Nonprogressive restrictive external ophthalmoplegia |
| HP:0007838 | Progressive ptosis |
| HP:0007836 | Mosaic corneal dystrophy |
| HP:0007835 | S-shaped palpebral fissures |
| HP:0007841 | Amyloid deposition in the vitreous humor |
| HP:0007840 | Long upper eyelashes |
| HP:0007843 | Attenuation of retinal blood vessels |
| HP:0007850 | Retinal vascular proliferation |
| http://purl.obolibrary.org/obo/GO_0046544 | development of secondary male sexual characteristics |
| HP:0007856 | Punctate opacification of the cornea |
| http://purl.obolibrary.org/obo/GO_0046543 | development of secondary female sexual characteristics |
| http://purl.obolibrary.org/obo/GO_0045136 | development of secondary sexual characteristics |
| HP:0007854 | Glaucomatous visual field defect |
| HP:0007859 | Congenital horizontal nystagmus |
| HP:0007858 | Chorioretinal lacunae |
| http://purl.obolibrary.org/obo/GO_0046541 | saliva secretion |
| http://purl.obolibrary.org/obo/GO_0032941 | secretion by tissue |
| http://purl.obolibrary.org/obo/GO_0022600 | digestive system process |
| HP:0032806 | Focal impaired awareness sensory seizure with visual features |
| HP:0032801 | Focal impaired awareness cognitive seizure with memory impairment |
| HP:0032687 | Focal cognitive seizure with memory impairment |
| HP:0032800 | Focal aware sensory seizure with vestibular features |
| http://purl.obolibrary.org/obo/NBO_0000690 | status epilepticus |
| HP:0032805 | Focal impaired awareness sensory seizure with vestibular features |
| HP:0032759 | Focal sensory seizure with vestibular features |
| HP:0032804 | Focal impaired awareness sensory seizure with olfactory features |
| HP:0032803 | Focal impaired awareness cognitive seizure with dysgraphia/agraphia |
| HP:0032699 | Focal cognitive seizure with dysgraphia/agraphia |
| HP:0032802 | Focal impaired awareness cognitive seizure with dyscalculia/acalculia |
| HP:0032691 | Focal cognitive seizure with dyscalculia/acalculia |
| http://purl.obolibrary.org/obo/PR_Q63961 | endoglin (mouse) |
| http://purl.obolibrary.org/obo/PR_000001345 | endoglin |
| HP:0007809 | Punctate corneal dystrophy |
| HP:0007807 | Optic nerve compression |
| http://purl.obolibrary.org/obo/PR_P10966-1 | T-cell surface glycoprotein CD8 beta chain isoform 1 (human) |
| http://purl.obolibrary.org/obo/PR_P10966 | T-cell surface glycoprotein CD8 beta chain (human) |
| http://purl.obolibrary.org/obo/PR_000025405 | T-cell surface glycoprotein CD8 beta chain isoform 1 |
| http://purl.obolibrary.org/obo/PR_000001085 | T-cell surface glycoprotein CD8 beta chain |
| HP:0007800 | Increased axial length of the globe |
| HP:0001090 | Abnormally large globe |
| HP:0100887 | Abnormality of globe size |
| HP:0007802 | Granular corneal dystrophy |
| HP:0007819 | Presenile cataracts |
| HP:0007818 | Central heterochromia |
| HP:0001100 | Heterochromia iridis |
| HP:0200064 | Asymmetry of iris pigmentation |
| HP:0008034 | Abnormal iris pigmentation |
| HP:0007817 | Horizontal supranuclear gaze palsy |
| HP:0000605 | Supranuclear gaze palsy |
| HP:0000549 | Abnormal conjugate eye movement |
| HP:0007812 | Herpetiform corneal ulceration |
| HP:0012804 | Corneal ulceration |
| HP:0011495 | Abnormal corneal epithelium morphology |
| HP:0007811 | Horizontal pendular nystagmus |
| HP:0006934 | Congenital nystagmus |
| HP:0012043 | Pendular nystagmus |
| HP:0007815 | Abnormal distribution of retinal arterioles and venules |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0007813 | Nongranulomatous uveitis |
| HP:0000554 | Uveitis |
| HP:0032841 | Neonatal bilateral asymmetric epileptic spasm |
| HP:0032840 | Neonatal bilateral symmetric epileptic spasm |
| http://purl.obolibrary.org/obo/UBERON_0001388 | gastrocnemius |
| http://purl.obolibrary.org/obo/UBERON_0001389 | soleus muscle |
| HP:0005242 | Extrahepatic biliary duct atresia |
| http://purl.obolibrary.org/obo/UBERON_0001380 | vastus medialis |
| HP:0005243 | Partial abdominal muscle agenesis |
| HP:0005244 | Gastrointestinal infarctions |
| http://purl.obolibrary.org/obo/UBERON_0001384 | primary motor cortex |
| http://purl.obolibrary.org/obo/UBERON_0002616 | regional part of brain |
| HP:0005240 | Esophageal obstruction |
| HP:0005241 | Total intestinal aganglionosis |
| HP:0004362 | Abnormality of enteric ganglion morphology |
| http://purl.obolibrary.org/obo/UBERON_0001385 | tibialis anterior |
| http://purl.obolibrary.org/obo/UBERON_0008230 | tibialis |
| http://purl.obolibrary.org/obo/UBERON_0004256 | hindlimb zeugopod muscle |
| http://purl.obolibrary.org/obo/UBERON_0001383 | muscle of leg |
| http://purl.obolibrary.org/obo/UBERON_0000366 | flexor muscle |
| HP:0032845 | Focal aware epileptic spasm |
| HP:0032844 | Focal impaired awareness epileptic spasm |
| HP:0032843 | Focal-onset epileptic spasm |
| HP:0032842 | Generalized-onset epileptic spasm |
| HP:0011097 | Epileptic spasm |
| HP:0005246 | Giant hypertrophic gastritis |
| HP:0032849 | Aphasic status epilepticus |
| HP:0005247 | Hypoplasia of the abdominal wall musculature |
| HP:0032848 | Focal aware cognitive seizure with neglect |
| HP:0005248 | Intrahepatic biliary atresia |
| HP:0032847 | Focal impaired awareness hemifacial clonic seizure |
| HP:0005249 | Functional intestinal obstruction |
| http://purl.obolibrary.org/obo/GO_0010567 | regulation of ketone catabolic process |
| http://purl.obolibrary.org/obo/GO_0031329 | regulation of cellular catabolic process |
| HP:0032830 | Neonatal seizure with bilateral asymmetric automatism |
| HP:0005253 | Increased anterioposterior diameter of thorax |
| HP:0100625 | Enlarged thorax |
| HP:0005254 | Unilateral chest hypoplasia |
| HP:0005255 | Absence of pectoralis minor muscle |
| HP:0005256 | Unilateral absence of pectoralis major muscle |
| HP:0008998 | Pectoralis hypoplasia |
| HP:0008953 | Pectoralis major hypoplasia |
| HP:0011957 | Abnormal pectoral muscle morphology |
| HP:0032839 | Bilateral symmetric neonatal sequential seizure |
| HP:0005250 | High intestinal obstruction |
| http://purl.obolibrary.org/obo/UBERON_0001394 | axillary artery |
| HP:0032834 | Neonatal seizure with unilateral automatism |
| http://purl.obolibrary.org/obo/GO_0010572 | positive regulation of platelet activation |
| HP:0032832 | Neonatal bilateral asymmetric myoclonic seizure |
| HP:0032831 | Neonatal bilateral asymmetric tonic seizure |
| HP:0005257 | Thoracic hypoplasia |
| HP:0032838 | Neonatal unilateral epileptic spasm |
| HP:0032833 | Neonatal epileptic spasm |
| HP:0005258 | Pectoral muscle hypoplasia/aplasia |
| HP:0032837 | Bilateral asymmetric neonatal sequential seizure |
| HP:0005259 | Abnormal facility in opposing the shoulders |
| HP:0032836 | Neonatal bilateral symmetric myoclonic seizure |
| HP:0032835 | Neonatal seizure with bilateral symmetric automatism |
| HP:0032829 | Neonatal electro-clinical motor seizure with automatism |
| HP:0005267 | Premature delivery because of cervical insufficiency or membrane fragility |
| HP:0001622 | Premature birth |
| HP:0032828 | Neonatal bilateral symmetric tonic seizure |
| HP:0005261 | Joint hemorrhage |
| HP:0032823 | Neonatal electro-clinical seizure with behavior arrest |
| HP:0032822 | Neonatal electro-clinical autonomic seizure |
| HP:0032820 | Neonatal multifocal clonic seizure |
| HP:0005268 | Spontaneous abortion |
| HP:0032827 | Multifocal neonatal sequential seizure |
| HP:0032826 | Focal neonatal sequential seizure |
| HP:0032825 | Neonatal electro-clinical sequential motor seizure |
| HP:0032824 | Neonatal focal tonic seizure |
| HP:0032821 | Neonatal electro-clinical tonic seizure |
| HP:0005280 | Depressed nasal bridge |
| HP:0005281 | Hypoplastic nasal bridge |
| http://purl.obolibrary.org/obo/GO_2000727 | positive regulation of cardiac muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0051155 | positive regulation of striated muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0051149 | positive regulation of muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0055025 | positive regulation of cardiac muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0045844 | positive regulation of striated muscle tissue development |
| http://purl.obolibrary.org/obo/GO_1901863 | positive regulation of muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0048636 | positive regulation of muscle organ development |
| http://purl.obolibrary.org/obo/GO_1905209 | positive regulation of cardiocyte differentiation |
| http://purl.obolibrary.org/obo/GO_2000726 | negative regulation of cardiac muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0051154 | negative regulation of striated muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0051148 | negative regulation of muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0055026 | negative regulation of cardiac muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0045843 | negative regulation of striated muscle tissue development |
| http://purl.obolibrary.org/obo/GO_1901862 | negative regulation of muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0048635 | negative regulation of muscle organ development |
| http://purl.obolibrary.org/obo/GO_1905208 | negative regulation of cardiocyte differentiation |
| http://purl.obolibrary.org/obo/GO_2000725 | regulation of cardiac muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0055024 | regulation of cardiac muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0016202 | regulation of striated muscle tissue development |
| http://purl.obolibrary.org/obo/GO_1901861 | regulation of muscle tissue development |
| http://purl.obolibrary.org/obo/GO_0048634 | regulation of muscle organ development |
| http://purl.obolibrary.org/obo/GO_0051153 | regulation of striated muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_0051147 | regulation of muscle cell differentiation |
| http://purl.obolibrary.org/obo/GO_1905207 | regulation of cardiocyte differentiation |
| http://purl.obolibrary.org/obo/GO_2000026 | regulation of multicellular organismal development |
| HP:0005275 | Cartilaginous ossification of nose |
| HP:0032819 | Neonatal bilateral clonic seizure |
| HP:0032818 | Neonatal focal clonic seizure |
| HP:0005278 | Hypoplastic nasal tip |
| HP:0032817 | Neonatal focal myoclonic seizure |
| HP:0005272 | Prominent nasolabial fold |
| HP:0005273 | Absent nasal septal cartilage |
| HP:3000034 | Abnormality of cartilage of nasal septum |
| HP:0009935 | Aplasia/Hypoplasia of the nasal septum |
| HP:0005274 | Prominent nasal tip |
| HP:0000436 | Abnormality of the nasal tip |
| HP:0032812 | Neonatal electro-clinical non-motor seizure |
| HP:0032811 | Neonatal electrographic only seizure |
| HP:0032816 | Neonatal multifocal myoclonic seizure |
| HP:0032815 | Neonatal electro-clinical myoclonic seizure |
| HP:0032814 | Neonatal electro-clinical clonic seizure |
| HP:0032813 | Neonatal electro-clinical motor seizure |
| HP:0032809 | Neonatal electro-clinical seizure |
| HP:0032808 | Neonatal seizure with electrographic correlate |
| HP:0032807 | Neonatal seizure |
| HP:0030220 | Socially inappropriate behavior |
| HP:0030221 | Sweet craving |
| HP:0032880 | Focal impaired awareness sensory seizure with auditory features |
| HP:0030222 | Visual agnosia |
| HP:0010524 | Agnosia |
| HP:0030223 | Perseveration |
| HP:0032885 | Focal impaired awareness cognitive seizure with hallucination |
| HP:0032884 | Focal aware sensory seizure with somatosensory features |
| HP:0032883 | Focal aware cognitive seizure with deja vu/jamais vu |
| HP:0032882 | Focal impaired awareness cognitive seizure with deja vu/jamais vu |
| HP:0032697 | Focal cognitive seizure with deja vu/jamais vu |
| http://purl.obolibrary.org/obo/UBERON_0001344 | epithelium of vagina |
| http://purl.obolibrary.org/obo/UBERON_0000486 | multilaminar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0004804 | oviduct epithelium |
| http://purl.obolibrary.org/obo/UBERON_0001343 | seminiferous tubule of testis |
| HP:0005200 | Retroperitoneal fibrosis |
| HP:0005201 | Anomalous splenoportal venous system |
| HP:0031941 | Abnormal portal venous system morphology |
| HP:0006707 | Abnormality of the hepatic vasculature |
| HP:0007862 | Retinal calcification |
| HP:0005206 | Pancreatic pseudocyst |
| HP:0007867 | Restrictive partial external ophthalmoplegia |
| HP:0032889 | Focal aware sensory seizure with gustatory features |
| HP:0030229 | Accumulation of muscle fiber valosin-containing protein |
| HP:0030228 | Abnormal muscle fiber valosin-containing protein |
| HP:0005207 | Gastric hypertrophy |
| HP:0007866 | Retinal infarction |
| HP:0032888 | Focal impaired awareness cognitive seizure with forced thinking |
| HP:0032692 | Focal cognitive seizure with forced thinking |
| HP:0005208 | Secretory diarrhea |
| HP:0002014 | Diarrhea |
| HP:0032887 | Generalized atonic seizure |
| HP:0010819 | Atonic seizure |
| HP:0005209 | Intrahepatic bile duct cysts |
| HP:0011040 | Abnormality of the intrahepatic bile duct |
| HP:0032886 | Focal impaired awareness cognitive seizure with expressive dysphasia/aphasia |
| HP:0005202 | Helicobacter pylori infection |
| HP:0005203 | Spontaneous esophageal perforation |
| HP:0030225 | Accumulation of muscle fiber desmin |
| HP:0030224 | Abnormal muscle fiber desmin |
| HP:0030227 | Accumulation of muscle fiber myotilin |
| HP:0030226 | Abnormal muscle fiber myotilin |
| HP:0032870 | Focal impaired awareness cognitive seizure with dyslexia/alexia |
| HP:0032694 | Focal cognitive seizure with dyslexia/alexia |
| HP:0030210 | Muscle specific kinase antibody positivity |
| HP:0030211 | Slow pupillary light response |
| HP:0007695 | Abnormal pupillary light reflex |
| HP:0030212 | Collectionism |
| HP:0000722 | Obsessive-compulsive behavior |
| HP:0032874 | Focal impaired awareness cognitive seizure with auditory agnosia |
| HP:0032685 | Focal cognitive seizure with auditory agnosia |
| HP:0032873 | Focal aware sensory seizure with cephalic sensation |
| HP:0032872 | Focal impaired awareness cognitive seizure with illusion |
| HP:0032695 | Focal cognitive seizure with illusion |
| HP:0032871 | Focal aware cognitive seizure with hallucination |
| HP:0032703 | Focal cognitive seizure with hallucination |
| http://purl.obolibrary.org/obo/UBERON_0001355 | deep femoral artery |
| http://purl.obolibrary.org/obo/UBERON_0001356 | medial circumflex femoral artery |
| http://purl.obolibrary.org/obo/UBERON_0001359 | cerebrospinal fluid |
| HP:0005210 | Hypoplastic colon |
| HP:0004388 | Microcolon |
| HP:0100811 | Aplasia/Hypoplasia of the colon |
| HP:0005245 | Intestinal hypoplasia |
| HP:0005211 | Midgut malrotation |
| HP:0002566 | Intestinal malrotation |
| HP:0005212 | Anal mucosal leukoplakia |
| http://purl.obolibrary.org/obo/UBERON_0001351 | lacrimal sac |
| HP:0007874 | Almond-shaped palpebral fissure |
| HP:0200005 | Abnormal shape of the palpebral fissure |
| http://purl.obolibrary.org/obo/UBERON_0001350 | coccyx |
| http://purl.obolibrary.org/obo/UBERON_0006076 | caudal region of vertebral column |
| HP:0007873 | Abnormally prominent line of Schwalbe |
| HP:0008048 | Abnormality of the line of Schwalbe |
| http://purl.obolibrary.org/obo/UBERON_0001353 | anal region |
| HP:0007872 | Choroidal hemangioma |
| http://purl.obolibrary.org/obo/UBERON_0001352 | external acoustic meatus |
| HP:0030217 | Limb apraxia |
| HP:0002186 | Apraxia |
| HP:0005217 | Duplication of internal organs |
| HP:0032878 | Focal impaired awareness sensory seizure with cephalic sensation |
| HP:0032810 | Focal sensory seizure with cephalic sensation |
| HP:0005218 | Anoperineal fistula |
| HP:0010447 | Anal fistula |
| HP:0100819 | Intestinal fistula |
| HP:0004871 | Perineal fistula |
| HP:0100589 | Urogenital fistula |
| HP:0030218 | Punding |
| HP:0000733 | Stereotypy |
| HP:0032877 | Focal aware sensory seizure with hot-cold sensations |
| HP:0030219 | Semantic dementia |
| HP:0002145 | Frontotemporal dementia |
| HP:0000726 | Dementia |
| HP:0001268 | Mental deterioration |
| HP:0100543 | Cognitive impairment |
| HP:0005219 | Absence of intrinsic factor |
| HP:0032876 | Focal aware cognitive seizure with conduction dysphasia/aphasia |
| HP:0007875 | Congenital blindness |
| HP:0000618 | Blindness |
| HP:0005213 | Pancreatic calcification |
| HP:0030213 | Emotional blunting |
| HP:0030214 | Hypersexuality |
| HP:0008768 | Inappropriate sexual behavior |
| HP:0000735 | Impaired social interactions |
| HP:0012433 | Abnormal social behavior |
| HP:0000729 | Autistic behavior |
| HP:0005215 | Frequent Giardia lamblia infestation |
| HP:0004798 | Recurrent infection of the gastrointestinal tract |
| HP:0030215 | Inappropriate crying |
| HP:0000719 | Inappropriate behavior |
| HP:0031466 | Impairment in personality functioning |
| HP:0005216 | Impaired mastication |
| HP:0030216 | Inertia |
| HP:0000745 | Diminished motivation |
| HP:0007879 | Allergic conjunctivitis |
| HP:0000509 | Conjunctivitis |
| HP:0100533 | Inflammatory abnormality of the eye |
| HP:0032879 | Focal impaired awareness seizure with dissociation at onset |
| HP:0032689 | Focal cognitive seizure with dissociation |
| HP:0030200 | Fatiguable weakness of proximal limb muscles |
| http://purl.obolibrary.org/obo/PR_Q61391 | neprilysin (mouse) |
| http://purl.obolibrary.org/obo/PR_000001898 | neprilysin |
| HP:0032863 | Typical absence status epilepticus |
| HP:0032862 | Status epilepticus with ictal paresis |
| HP:0032861 | Focal non-convulsive status epilepticus with impairment of consciousness |
| http://purl.obolibrary.org/obo/UBERON_0001366 | parietal peritoneum |
| http://purl.obolibrary.org/obo/UBERON_0022351 | parietal serous membrane |
| http://purl.obolibrary.org/obo/UBERON_0001365 | sacro-iliac joint |
| http://purl.obolibrary.org/obo/UBERON_0011107 | synovial joint of pelvic girdle |
| HP:0005220 | Multiple intestinal neurofibromatosis |
| HP:0001067 | Neurofibromas |
| HP:0007880 | Marginal corneal dystrophy |
| http://purl.obolibrary.org/obo/CHEBI_132362 | citrate(4-) |
| http://purl.obolibrary.org/obo/CHEBI_133748 | citrate anion |
| HP:0005222 | Bowel diverticulosis |
| HP:0005223 | Duplicated colon |
| HP:0100668 | Intestinal duplication |
| HP:0011140 | Gastrointestinal duplication |
| HP:0007885 | Slowed horizontal saccades |
| HP:0000514 | Slow saccadic eye movements |
| http://purl.obolibrary.org/obo/UBERON_0001361 | femoral vein |
| HP:0030206 | EMG: incremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0007889 | Iridescent posterior subcapsular cataract |
| HP:0005229 | Jejunoileal ulceration |
| HP:0001549 | Abnormal ileum morphology |
| HP:0004398 | Peptic ulcer |
| HP:0030207 | Paradoxical respiration |
| HP:0032866 | Oculoclonic status epilepticus |
| HP:0032663 | Focal motor status epilepticus |
| HP:0032658 | Status epilepticus with prominent motor symptoms |
| HP:0030208 | Acetylcholine receptor antibody positivity |
| HP:0032865 | Myoclonic absence status epilepticus |
| HP:0032860 | Generalized non-convulsive status epilepticus without coma |
| HP:0030209 | Calcium channel antibody positivity |
| HP:0007886 | Absent extraocular muscles |
| HP:0032864 | Focal aware sensory seizure with auditory features |
| HP:0011158 | Focal sensory seizure with auditory features |
| HP:0005224 | Rectal abscess |
| HP:0002034 | Abnormality of the rectum |
| HP:0030202 | Favorable response of weakness to acetylcholine esterase inhibitors |
| HP:0005225 | Intestinal edema |
| HP:0030203 | Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
| HP:0030201 | Response to drugs acting on neuromuscular transmission |
| HP:0032869 | Focal non-convulsive status epilepticus without impairment of consciousness |
| HP:0032673 | Focal non-convulsive status epilepticus without coma |
| HP:0032671 | Non-convulsive status epilepticus without coma |
| HP:0031475 | Status epilepticus without prominent motor symptoms |
| HP:0005227 | Adenomatous colonic polyposis |
| HP:0030205 | Increased jitter at single fiber EMG |
| HP:0030006 | Single fiber EMG abnormality |
| HP:0032868 | Super-refractory status epilepticus |
| HP:0032867 | Refractory status epilepticus |
| HP:0002133 | Status epilepticus |
| HP:0032852 | Focal impaired awareness cognitive seizure with conduction dysphasia/aphasia |
| HP:0032698 | Focal cognitive seizure with conduction dysphasia/aphasia |
| HP:0032851 | Focal aware sensory seizure with visual features |
| HP:0011165 | Focal sensory seizure with visual features |
| HP:0032850 | Focal aware cognitive seizure with expressive dysphasia/aphasia |
| HP:0032681 | Focal aware cognitive seizure |
| HP:0032702 | Focal cognitive seizure with expressive dysphasia/aphasia |
| http://purl.obolibrary.org/obo/UBERON_0001379 | vastus lateralis |
| http://purl.obolibrary.org/obo/UBERON_0001378 | rectus femoris |
| http://purl.obolibrary.org/obo/UBERON_0001377 | quadriceps femoris |
| HP:0005231 | Chronic gastritis |
| HP:0007892 | Hypoplasia of the lacrimal punctum |
| HP:0011479 | Abnormal lacrimal punctum morphology |
| HP:0005232 | Pancreatic dysplasia |
| HP:0005233 | Hypoplasia of the gallbladder |
| HP:0011466 | Aplasia/Hypoplasia of the gallbladder |
| HP:0005234 | Neonatal intestinal obstruction |
| HP:0005214 | Intestinal obstruction |
| HP:0004796 | Gastrointestinal obstruction |
| HP:0005230 | Biliary tract obstruction |
| HP:0032856 | Focal aware bilateral motor seizure |
| HP:0032715 | Focal bilateral motor seizure |
| HP:0007899 | Retinal nonattachment |
| HP:0032855 | Photosensitive myoclonic-tonic-clonic seizure |
| HP:0020216 | Visually-induced seizure |
| HP:0007898 | Exudative retinopathy |
| HP:0032854 | Focal aware hemifacial clonic seizure |
| HP:0032711 | Focal aware clonic seizure |
| HP:0007332 | Focal hemifacial clonic seizure |
| HP:0032853 | Focal impaired awareness sensory seizure with hot-cold sensations |
| HP:0032760 | Focal sensory seizure with hot-cold sensations |
| HP:0005235 | Jejunal atresia |
| HP:0005265 | Abnormality of the jejunum |
| HP:0011100 | Intestinal atresia |
| HP:0002589 | Gastrointestinal atresia |
| HP:0005236 | Chronic calcifying pancreatitis |
| HP:0001733 | Pancreatitis |
| HP:0012091 | Abnormality of pancreas physiology |
| HP:0032859 | Focal motor impaired awareness seizure with paresis/paralysis |
| HP:0032721 | Focal motor seizure with paresis/paralysis |
| HP:0005237 | Degenerative liver disease |
| HP:0032858 | Focal motor impaired awareness seizure with negative myoclonus |
| HP:0005238 | Discrete intestinal polyps |
| HP:0032857 | Focal motor aware seizure with negative myoclonus |
| HP:0032846 | Focal motor seizure with negative myoclonus |
| HP:0030143 | Hyperactive bowel sounds |
| http://purl.obolibrary.org/obo/UBERON_0001308 | external iliac artery |
| HP:0030144 | Hypoactive bowel sounds |
| http://purl.obolibrary.org/obo/UBERON_0001307 | capsule of ovary |
| HP:0030145 | Lack of bowel sounds |
| http://purl.obolibrary.org/obo/UBERON_0001309 | internal iliac artery |
| HP:0030146 | Abnormal liver parenchyma morphology |
| http://purl.obolibrary.org/obo/PATO_0002317 | parallelogram |
| http://purl.obolibrary.org/obo/PATO_0001988 | quadrangular |
| HP:0030140 | Oral cavity bleeding |
| HP:0030141 | Abnormality of the posterior hairline |
| HP:0030142 | Abnormal bowel sounds |
| http://purl.obolibrary.org/obo/PATO_0002318 | superelliptic |
| http://purl.obolibrary.org/obo/PATO_0002006 | 2-D shape |
| http://purl.obolibrary.org/obo/UBERON_0001300 | scrotum |
| http://purl.obolibrary.org/obo/UBERON_0003963 | otic ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001808 | parasympathetic ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001805 | autonomic ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001701 | glossopharyngeal ganglion |
| http://purl.obolibrary.org/obo/UBERON_0009127 | epibranchial ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001714 | cranial ganglion |
| http://purl.obolibrary.org/obo/UBERON_0001302 | right uterine tube |
| http://purl.obolibrary.org/obo/UBERON_0001301 | epididymis |
| http://purl.obolibrary.org/obo/UBERON_0001304 | germinal epithelium of ovary |
| http://purl.obolibrary.org/obo/UBERON_0000484 | simple cuboidal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0010077 | cuboidal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0004911 | epithelium of female gonad |
| http://purl.obolibrary.org/obo/UBERON_0004909 | epithelium of gonad |
| http://purl.obolibrary.org/obo/UBERON_0001303 | left uterine tube |
| http://purl.obolibrary.org/obo/UBERON_0003967 | cutaneous elastic tissue |
| http://purl.obolibrary.org/obo/UBERON_0003968 | peripheral lymph node |
| http://purl.obolibrary.org/obo/CHEBI_58958 | organosulfate oxoanion |
| http://purl.obolibrary.org/obo/CHEBI_33482 | sulfur oxoanion |
| http://purl.obolibrary.org/obo/CHEBI_33485 | chalcogen oxoanion |
| http://purl.obolibrary.org/obo/CHEBI_58956 | branched-chain saturated fatty acid anion |
| http://purl.obolibrary.org/obo/UBERON_0003960 | styloid process of temporal bone |
| http://purl.obolibrary.org/obo/UBERON_0004530 | bony projection |
| http://purl.obolibrary.org/obo/CHEBI_58954 | straight-chain saturated fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_58953 | saturated fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_58951 | short-chain fatty acid anion |
| HP:0030147 | Truncal titubation |
| HP:0030148 | Heart murmur |
| HP:0031657 | Abnormal heart sound |
| HP:0030149 | Cardiogenic shock |
| HP:0031273 | Shock |
| HP:0030132 | Absence of large von Willibrand factor multimers |
| http://purl.obolibrary.org/obo/UBERON_0001319 | vaginal vein |
| HP:0032793 | Focal impaired awareness cognitive seizure with receptive dysphasia/aphasia |
| HP:0032696 | Focal cognitive seizure with receptive dysphasia/aphasia |
| HP:0032792 | Tonic seizure |
| HP:0030133 | Abnormal presence of ultra-large von Willebrand factor multimers |
| HP:0030134 | Total absence von Willebrand factor multimers |
| HP:0032791 | Focal impaired awareness cognitive seizure with anomia |
| HP:0032701 | Focal cognitive seizure with anomia |
| HP:0032790 | Focal impaired awareness behavior arrest seizure |
| HP:0030135 | Absence of intermediate von Willibrand factor multimers |
| HP:0032797 | Focal aware sensory seizure with olfactory features |
| HP:0032754 | Focal aware sensory seizure |
| HP:0011161 | Focal sensory seizure with olfactory features |
| HP:0032796 | Focal impaired awareness cognitive seizure with left-right confusion |
| HP:0032700 | Focal cognitive seizure with left-right confusion |
| HP:0030130 | Impaired von Willibrand factor collagen binding activity |
| HP:0032795 | Generalized myoclonic-tonic-clonic seizure |
| HP:0032677 | Generalized-onset motor seizure |
| HP:0002197 | Generalized-onset seizure |
| HP:0032794 | Myoclonic seizure |
| http://purl.obolibrary.org/obo/PATO_0002302 | decreased process quality |
| http://purl.obolibrary.org/obo/UBERON_0001310 | umbilical artery |
| http://purl.obolibrary.org/obo/UBERON_0010260 | umbilical blood vessel |
| http://purl.obolibrary.org/obo/PATO_0002304 | increased process quality |
| http://purl.obolibrary.org/obo/UBERON_0003975 | internal female genitalia |
| http://purl.obolibrary.org/obo/UBERON_0004175 | internal genitalia |
| http://purl.obolibrary.org/obo/UBERON_0001312 | superior vesical artery |
| http://purl.obolibrary.org/obo/UBERON_0009027 | vesical artery |
| http://purl.obolibrary.org/obo/UBERON_0001317 | internal iliac vein |
| http://purl.obolibrary.org/obo/UBERON_0005610 | iliac vein |
| http://purl.obolibrary.org/obo/UBERON_0003970 | placental labyrinth vasculature |
| http://purl.obolibrary.org/obo/UBERON_0006876 | vasculature of organ |
| HP:0032799 | Focal impaired awareness hemiclonic seizure |
| HP:0006813 | Focal hemiclonic seizure |
| HP:0032725 | Focal impaired awareness clonic seizure |
| HP:0002266 | Focal clonic seizure |
| HP:0020221 | Clonic seizure |
| HP:0032798 | Focal impaired awareness cognitive seizure with neglect |
| HP:0032756 | Focal impaired awareness cognitive seizure |
| HP:0032693 | Focal cognitive seizure with neglect |
| HP:0032680 | Focal cognitive seizure |
| HP:0030136 | Enhanced ristocetin cofactor assay activity |
| HP:0030137 | Prolonged bleeding following circumcision |
| HP:0011890 | Prolonged bleeding following procedure |
| HP:0030138 | Excessive bleeding from superficial cuts |
| HP:0030139 | Excessive bleeding after a venipuncture |
| HP:0030121 | Reduced muscle fiber calpain-3 |
| HP:0032782 | Focal impaired awareness autonomic seizure with lacrimation |
| HP:0030122 | Reduced muscle fiber perlecan |
| HP:0032781 | Focal aware autonomic seizure with urge to urinate/defecate |
| HP:0032780 | Focal impaired awareness autonomic seizure with erection |
| HP:0030124 | Reduced muscle fiber lamin A/C |
| HP:0030123 | Abnormal muscle fiber lamin A/C |
| HP:0032786 | Migrating focal seizure |
| HP:0032785 | Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena |
| HP:0032784 | Focal aware autonomic seizure with palpitations/tachycardia/bradycardia/asystole |
| HP:0030120 | Absent muscle fiber calpain-3 |
| HP:0032783 | Focal aware autonomic seizure with piloerection |
| http://purl.obolibrary.org/obo/UBERON_0003983 | conus arteriosus |
| http://purl.obolibrary.org/obo/UBERON_0004151 | cardiac chamber |
| http://purl.obolibrary.org/obo/UBERON_0001322 | sciatic nerve |
| http://purl.obolibrary.org/obo/UBERON_0003984 | uterine tube infundibulum |
| http://purl.obolibrary.org/obo/UBERON_0001323 | tibial nerve |
| http://purl.obolibrary.org/obo/UBERON_0003988 | thymus corticomedullary boundary |
| http://purl.obolibrary.org/obo/UBERON_0001325 | muscle of pelvis |
| http://purl.obolibrary.org/obo/UBERON_0001328 | lobe of prostate |
| http://purl.obolibrary.org/obo/UBERON_0003980 | cerebellum fissure |
| http://purl.obolibrary.org/obo/UBERON_0014466 | subarachnoid fissure |
| HP:0030129 | Impaired ristocetin cofactor assay activity |
| HP:0032789 | Focal aware behavior arrest seizure |
| HP:0011173 | Focal behavior arrest seizure |
| HP:0032788 | Focal impaired awareness autonomic seizure with palpitations/tachycardia/bradycardia/asystole |
| HP:0030125 | Sacralization of the fifth lumbar vertebra |
| HP:0030127 | Endometriosis |
| HP:0030012 | Abnormal female reproductive system physiology |
| HP:0030110 | Absent muscle fiber delta sarcoglycan |
| HP:0030111 | Reduced muscle fiber delta sarcoglycan |
| HP:0030105 | Abnormal muscle fiber delta sarcoglycan |
| HP:0032770 | Focal aware autonomic seizure with erection |
| HP:0032764 | Focal autonomic seizure with erection |
| HP:0030112 | Abnormal muscle fiber alpha dystroglycan |
| http://purl.obolibrary.org/obo/PATO_0002328 | decreased angle to |
| http://purl.obolibrary.org/obo/PATO_0001476 | decreased position |
| HP:0032775 | Focal impaired awareness autonomic seizure with hypoventilation/hyperventilation/altered respiration |
| HP:0032766 | Focal autonomic seizure with hypoventilation/hyperventilation/altered respiration |
| http://purl.obolibrary.org/obo/PATO_0002327 | increased angle to |
| http://purl.obolibrary.org/obo/PATO_0001475 | increased position |
| HP:0032774 | Focal impaired awareness autonomic seizure with urge to urinate/defecate |
| HP:0032765 | Focal autonomic seizure with urge to urinate/defecate |
| HP:0032773 | Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole |
| HP:0032772 | Focal impaired awareness autonomic seizure with piloerection |
| HP:0032767 | Focal autonomic seizure with piloerection |
| http://purl.obolibrary.org/obo/PATO_0002324 | offset quality |
| http://purl.obolibrary.org/obo/UBERON_0001333 | male urethra |
| http://purl.obolibrary.org/obo/UBERON_0001332 | prepuce of penis |
| http://purl.obolibrary.org/obo/UBERON_0011374 | prepuce |
| http://purl.obolibrary.org/obo/PATO_0002326 | angle |
| http://purl.obolibrary.org/obo/PATO_0000133 | orientation |
| http://purl.obolibrary.org/obo/PATO_0000140 | position |
| http://purl.obolibrary.org/obo/PATO_0001018 | physical quality |
| http://purl.obolibrary.org/obo/PATO_0002325 | onset quality |
| http://purl.obolibrary.org/obo/PATO_0002323 | temporal distribution quality |
| http://purl.obolibrary.org/obo/PATO_0002062 | physical quality of a process |
| http://purl.obolibrary.org/obo/PATO_0001236 | process quality |
| http://purl.obolibrary.org/obo/UBERON_0001334 | female urethra |
| http://purl.obolibrary.org/obo/UBERON_0000057 | urethra |
| http://purl.obolibrary.org/obo/UBERON_0003999 | hyoid bone body |
| http://purl.obolibrary.org/obo/UBERON_0010273 | zone of hyoid bone |
| http://purl.obolibrary.org/obo/UBERON_0001338 | urethral gland |
| http://purl.obolibrary.org/obo/UBERON_0001331 | skin of penis |
| http://purl.obolibrary.org/obo/UBERON_0001330 | pampiniform plexus |
| http://purl.obolibrary.org/obo/UBERON_0001593 | venous plexus |
| http://purl.obolibrary.org/obo/UBERON_0004537 | blood vasculature |
| http://purl.obolibrary.org/obo/UBERON_0005629 | vascular plexus |
| HP:0030118 | Reduced muscle fiber emerin |
| HP:0032779 | Focal impaired awareness autonomic seizure with pupillary dilation/constriction |
| HP:0032763 | Focal autonomic seizure with pupillary dilation/constriction |
| HP:0030119 | Abnormal muscle fiber calpain-3 |
| HP:0032778 | Focal impaired awareness autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena |
| HP:0011159 | Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena |
| HP:0032777 | Focal impaired awareness autonomic seizure with pallor/flushing |
| HP:0032755 | Focal impaired awareness autonomic seizure |
| HP:0032762 | Focal autonomic seizure with pallor/flushing |
| HP:0032776 | Focal aware autonomic seizure with lacrimation |
| HP:0032740 | Focal aware autonomic seizure |
| HP:0032682 | Focal non-motor aware seizure |
| HP:0032771 | Focal autonomic seizure with lacrimation |
| HP:0011154 | Focal autonomic seizure |
| HP:0030114 | Absent muscle fiber dysferlin |
| HP:0030115 | Reduced muscle fiber dysferlin |
| HP:0030113 | Abnormal muscle fiber dysferlin |
| HP:0030117 | Absent muscle fiber emerin |
| HP:0030116 | Abnormal muscle fiber emerin |
| HP:0030089 | Abnormal muscle fiber protein expression |
| http://purl.obolibrary.org/obo/CHEBI_3098 | bile acid |
| http://purl.obolibrary.org/obo/CHEBI_138366 | bile acids |
| HP:0030187 | Titubation |
| http://purl.obolibrary.org/obo/GO_2000832 | negative regulation of steroid hormone secretion |
| HP:0030188 | Tremor by anatomical site |
| HP:0030183 | Impaired visually enhanced vestibulo-ocular reflex |
| HP:0030185 | Isometric tremor |
| HP:0030186 | Kinetic tremor |
| HP:0002345 | Action tremor |
| HP:0030180 | Oppenheim reflex |
| HP:0005170 | Complete heart block with broad QRS complexes |
| HP:0030181 | Gordon reflex |
| http://purl.obolibrary.org/obo/PATO_0002359 | broad |
| HP:0030182 | Tetraplegia/tetraparesis |
| http://purl.obolibrary.org/obo/UBERON_0003921 | pancreas primordium |
| http://purl.obolibrary.org/obo/UBERON_0003923 | dorsal pancreatic bud |
| http://purl.obolibrary.org/obo/GO_2000833 | positive regulation of steroid hormone secretion |
| http://purl.obolibrary.org/obo/GO_2000831 | regulation of steroid hormone secretion |
| http://purl.obolibrary.org/obo/GO_0044060 | regulation of endocrine process |
| http://purl.obolibrary.org/obo/UBERON_0003924 | ventral pancreatic bud |
| http://purl.obolibrary.org/obo/UBERON_0003922 | pancreatic epithelial bud |
| HP:0005165 | Shortened PR interval |
| HP:0031593 | Abnormal PR interval |
| http://purl.obolibrary.org/obo/PATO_0002362 | decreased tendency |
| http://purl.obolibrary.org/obo/PATO_0002303 | decreased object quality |
| http://purl.obolibrary.org/obo/PATO_0002301 | decreased quality |
| http://purl.obolibrary.org/obo/PATO_0002361 | increased tendency |
| http://purl.obolibrary.org/obo/PATO_0002305 | increased object quality |
| http://purl.obolibrary.org/obo/PATO_0002300 | increased quality |
| http://purl.obolibrary.org/obo/PATO_0000069 | deviation (from_normal) |
| http://purl.obolibrary.org/obo/PATO_0000068 | qualitative |
| http://purl.obolibrary.org/obo/PATO_0002360 | tendency |
| http://purl.obolibrary.org/obo/PATO_0001727 | disposition |
| HP:0005168 | Elevated right atrial pressure |
| HP:0025443 | Abnormal cardiac atrial physiology |
| HP:0005162 | Left ventricular dysfunction |
| HP:0005164 | Dysplastic pulmonary valve |
| HP:0030176 | Asymmetric peripheral demyelination |
| HP:0030178 | Abnormality of central nervous system electrophysiology |
| HP:0030179 | Abnormal peripheral action potential amplitude |
| HP:0030172 | Peripheral amyelination |
| HP:0030174 | Increased peripheral myelin thickness |
| HP:0030175 | Myelin tomacula |
| HP:0030173 | Peripheral hypermyelination |
| HP:0005180 | Tricuspid regurgitation |
| HP:0031651 | Abnormal tricuspid valve physiology |
| HP:0031650 | Abnormal atrioventricular valve physiology |
| HP:0031653 | Abnormal heart valve physiology |
| HP:0005181 | Premature coronary artery atherosclerosis |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0002621 | Atherosclerosis |
| http://purl.obolibrary.org/obo/UBERON_0003930 | atrioventricular canal endocardium |
| HP:0030170 | Cystic artery pseudoaneurysm |
| HP:0005182 | Bicuspid pulmonary valve |
| HP:0031566 | Abnormal pulmonary valve cusp morphology |
| HP:0001641 | Abnormal pulmonary valve morphology |
| HP:0030171 | Perirenal hematoma |
| http://purl.obolibrary.org/obo/UBERON_0003931 | diencephalic white matter |
| http://purl.obolibrary.org/obo/UBERON_0019261 | white matter of forebrain |
| HP:0005176 | Dysplastic aortic valve |
| HP:0001646 | Abnormal aortic valve morphology |
| HP:0005177 | Premature arteriosclerosis |
| HP:0002634 | Arteriosclerosis |
| http://purl.obolibrary.org/obo/UBERON_0015918 | deep lymph node |
| HP:0005178 | Complete heart block with narrow QRS complexes |
| HP:0001709 | Third degree atrioventricular block |
| HP:0001678 | Atrioventricular block |
| HP:0005150 | Abnormal atrioventricular conduction |
| http://purl.obolibrary.org/obo/UBERON_0015917 | superficial lymph node |
| HP:0005172 | Left posterior fascicular block |
| HP:0011713 | Left bundle branch block |
| HP:0011710 | Bundle branch block |
| HP:0012722 | Heart block |
| HP:0031546 | Cardiac conduction abnormality |
| HP:0005174 | Membranous subvalvular aortic stenosis |
| HP:0001682 | Subvalvular aortic stenosis |
| HP:0011103 | Abnormal left ventricular outflow tract morphology |
| HP:0001711 | Abnormal left ventricle morphology |
| HP:0030165 | Temporal artery tortuosity |
| HP:0030166 | Night sweats |
| HP:0030167 | Antimitochondrial antibody positivity |
| HP:0030168 | Dilated superficial abdominal veins |
| HP:0001015 | Prominent superficial veins |
| HP:0007394 | Prominent superficial blood vessels |
| HP:0030161 | Vaginal pruritus |
| HP:0030162 | Glomerulomegaly |
| HP:0030164 | Jaw claudication |
| HP:0005190 | Proximal finger joint hyperextensibility |
| HP:0001187 | Hyperextensibility of the finger joints |
| HP:0006094 | Finger joint hypermobility |
| HP:0006256 | Abnormality of hand joint mobility |
| HP:0005191 | Congenital knee dislocation |
| HP:0004976 | Knee dislocation |
| HP:0005193 | Restricted large joint movement |
| http://purl.obolibrary.org/obo/UBERON_0003942 | somatic sensory system |
| HP:0030160 | Cervicitis |
| http://purl.obolibrary.org/obo/UBERON_0003946 | placenta labyrinth |
| http://purl.obolibrary.org/obo/GO_0034505 | tooth mineralization |
| HP:0005187 | Progressive joint destruction |
| HP:0005183 | Pericardial lymphangiectasia |
| HP:0031842 | Lymphangiectasis |
| HP:0100766 | Abnormal lymphatic vessel morphology |
| HP:0001697 | Abnormal pericardium morphology |
| HP:0005184 | Prolonged QTc interval |
| HP:0001657 | Prolonged QT interval |
| HP:0031547 | Abnormal QT interval |
| HP:0005185 | Global systolic dysfunction |
| HP:0006673 | Reduced systolic function |
| HP:0005186 | Synovial hypertrophy |
| http://purl.obolibrary.org/obo/GO_0010560 | positive regulation of glycoprotein biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0010557 | positive regulation of macromolecule biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1903020 | positive regulation of glycoprotein metabolic process |
| http://purl.obolibrary.org/obo/GO_0031328 | positive regulation of cellular biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0010561 | negative regulation of glycoprotein biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0010559 | regulation of glycoprotein biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1903019 | negative regulation of glycoprotein metabolic process |
| http://purl.obolibrary.org/obo/GO_1903018 | regulation of glycoprotein metabolic process |
| HP:0030169 | Gastric varix |
| HP:0030154 | Gallbladder perforation |
| http://purl.obolibrary.org/obo/UBERON_0003959 | rete testis |
| HP:0030155 | Scrotal pain |
| HP:0030156 | Bence Jones Proteinuria |
| http://purl.obolibrary.org/obo/GO_0010544 | negative regulation of platelet activation |
| HP:0030157 | Flank pain |
| HP:0030150 | Plasmacytosis |
| http://purl.obolibrary.org/obo/GO_0010543 | regulation of platelet activation |
| HP:0030153 | Cholangiocarcinoma |
| HP:0100574 | Biliary tract neoplasm |
| http://purl.obolibrary.org/obo/UBERON_0003951 | ocular fundus |
| http://purl.obolibrary.org/obo/UBERON_0003952 | anterior stroma of cornea |
| http://purl.obolibrary.org/obo/UBERON_0003953 | posterior stroma of cornea |
| http://purl.obolibrary.org/obo/PATO_0002364 | shortened |
| http://purl.obolibrary.org/obo/PATO_0000052 | shape |
| http://purl.obolibrary.org/obo/PATO_0000051 | morphology |
| http://purl.obolibrary.org/obo/PATO_0001241 | physical object quality |
| http://purl.obolibrary.org/obo/BFO_0000019 | quality |
| http://purl.obolibrary.org/obo/UBERON_0003954 | squamoparietal suture |
| http://purl.obolibrary.org/obo/UBERON_0003955 | molar crown |
| http://purl.obolibrary.org/obo/UBERON_0003956 | aqueous drainage system |
| HP:0005198 | Stiff interphalangeal joints |
| HP:0005199 | Aplasia of the abdominal wall musculature |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature |
| HP:0005194 | Flattened metatarsal heads |
| HP:0005197 | Generalized morning stiffness |
| HP:0001387 | Joint stiffness |
| HP:0030158 | Cervical ectropion |
| HP:0030159 | Cervical polyp |
| HP:0012888 | Abnormality of the uterine cervix |
| http://purl.obolibrary.org/obo/PR_000048096 | PR:000048096 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P35968 | vascular endothelial growth factor receptor 2 (human) |
| http://purl.obolibrary.org/obo/PR_000002112 | vascular endothelial growth factor receptor 2 |
| http://purl.obolibrary.org/obo/PR_000001971 | vascular endothelial growth factor receptor |
| http://purl.obolibrary.org/obo/NBO_0000656 | somatic sensation related behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000655 | sensation behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000651 | simple partial seizure with motor signs |
| http://purl.obolibrary.org/obo/CHEBI_83972 | 3-methyl fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_67013 | methyl-branched fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_58955 | branched-chain fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_46904 | oxalate(1-) |
| http://purl.obolibrary.org/obo/CHEBI_83955 | 2-saturated fatty acid anion |
| http://purl.obolibrary.org/obo/CHEBI_28868 | fatty acid anion |
| http://purl.obolibrary.org/obo/NBO_0000648 | complex partial seizure |
| http://purl.obolibrary.org/obo/NBO_0000647 | simple partial seizure |
| http://purl.obolibrary.org/obo/NBO_0000643 | involuntary movement behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000642 | epilepsy |
| http://purl.obolibrary.org/obo/CHEBI_46915 | sarcosinate |
| http://purl.obolibrary.org/obo/CHEBI_46913 | ornithinium(2+) |
| http://purl.obolibrary.org/obo/UBERON_0003907 | left atrioventricular canal |
| http://purl.obolibrary.org/obo/CHEBI_46912 | ornithinium(1+) |
| http://purl.obolibrary.org/obo/CHEBI_33719 | alpha-amino-acid cation |
| http://purl.obolibrary.org/obo/CHEBI_33703 | amino-acid cation |
| http://purl.obolibrary.org/obo/UBERON_0003908 | right atrioventricular canal |
| http://purl.obolibrary.org/obo/UBERON_0002087 | atrioventricular canal |
| http://purl.obolibrary.org/obo/UBERON_0003900 | epaxial myotome region |
| http://purl.obolibrary.org/obo/UBERON_0003901 | horizontal septum |
| http://purl.obolibrary.org/obo/UBERON_0003902 | retinal neural layer |
| http://purl.obolibrary.org/obo/UBERON_0001781 | layer of retina |
| http://purl.obolibrary.org/obo/UBERON_0022303 | nervous system cell part layer |
| http://purl.obolibrary.org/obo/NBO_0000678 | febrile seizure |
| http://purl.obolibrary.org/obo/NBO_0000686 | provoked seizure |
| http://purl.obolibrary.org/obo/NBO_0000677 | tonic seizure |
| http://purl.obolibrary.org/obo/NBO_0000676 | tonic clonic seizure |
| http://purl.obolibrary.org/obo/NBO_0000670 | atonic seizure |
| HP:0030198 | Fatigable weakness of distal limb muscles |
| HP:0030199 | Fatigable weakness of neck muscles |
| http://purl.obolibrary.org/obo/UBERON_0003915 | endothelial tube |
| HP:0030194 | Fatigable weakness of speech muscles |
| HP:0030195 | Fatigable weakness of swallowing muscles |
| HP:0030196 | Fatigable weakness of respiratory muscles |
| HP:0030197 | Fatigable weakness of skeletal muscles |
| HP:0030190 | Oral motor hypotonia |
| HP:0030193 | Fatigable weakness of chewing muscles |
| HP:0030192 | Fatigable weakness of bulbar muscles |
| http://purl.obolibrary.org/obo/UBERON_0003911 | choroid plexus epithelium |
| http://purl.obolibrary.org/obo/NBO_0000669 | absence seizures |
| http://purl.obolibrary.org/obo/NBO_0000663 | partial seizure evolving to secondarily generalized seizure |
| http://purl.obolibrary.org/obo/NBO_0000646 | partial seizure |
| http://purl.obolibrary.org/obo/NBO_0000662 | generalized seizure |
| http://purl.obolibrary.org/obo/NBO_0000025 | seizures |
| http://purl.obolibrary.org/obo/NBO_0000012 | seizures/epilepsy |
| http://purl.obolibrary.org/obo/CHEBI_22984 | calcium atom |
| http://purl.obolibrary.org/obo/CHEBI_22313 | alkaline earth metal atom |
| http://purl.obolibrary.org/obo/NBO_0000617 | laughing behavior |
| http://purl.obolibrary.org/obo/NBO_0000616 | eye contact |
| http://purl.obolibrary.org/obo/NBO_0000613 | nonverbal communication behavior |
| http://purl.obolibrary.org/obo/NBO_0000612 | communication behavior |
| http://purl.obolibrary.org/obo/NBO_0000611 | olfactory hallucination |
| http://purl.obolibrary.org/obo/NBO_0000610 | auditory hallucination |
| http://purl.obolibrary.org/obo/NBO_0000609 | visual hallucination |
| http://purl.obolibrary.org/obo/NBO_0000608 | hallucination |
| http://purl.obolibrary.org/obo/NBO_0000308 | sensation behavior |
| http://purl.obolibrary.org/obo/NBO_0000607 | cognitive behavior |
| http://purl.obolibrary.org/obo/NBO_0000606 | forgetfulness |
| http://purl.obolibrary.org/obo/NBO_0000605 | sexual inhibition |
| http://purl.obolibrary.org/obo/NBO_0000604 | social inhibition |
| http://purl.obolibrary.org/obo/NBO_0000011 | social behavior |
| http://purl.obolibrary.org/obo/NBO_0000603 | delusion |
| http://purl.obolibrary.org/obo/NBO_0000266 | cognitive behavior phenotype |
| http://purl.obolibrary.org/obo/PATO_0000001 | quality |
| http://purl.obolibrary.org/obo/BFO_0000020 | specifically dependent continuant |
| http://purl.obolibrary.org/obo/PR_Q00342 | receptor-type tyrosine-protein kinase FLT3 (mouse) |
| http://purl.obolibrary.org/obo/PR_000002001 | receptor-type tyrosine-protein kinase FLT3 |
| http://purl.obolibrary.org/obo/PR_000001810 | CSF-1/PDGF receptor-type tyrosine-protein kinase |
| http://purl.obolibrary.org/obo/NBO_0000602 | apathy |
| http://purl.obolibrary.org/obo/NBO_0000601 | emotional behavior phenotype |
| http://www.informatics.jax.org/marker/MGI:97612 | Plaur (mouse) |
| http://purl.obolibrary.org/obo/NBO_0000623 | echolalia |
| http://purl.obolibrary.org/obo/NBO_0000567 | stereotypic behavior |
| http://purl.obolibrary.org/obo/NBO_0000644 | voluntary movement behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000568 | kinesthetic behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000621 | selective mutism |
| http://purl.obolibrary.org/obo/NBO_0000564 | social behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000620 | frustration behavior |
| http://purl.obolibrary.org/obo/NBO_0000003 | emotional behavior |
| HP:0007944 | Intermittent microsaccadic pursuits |
| HP:0001152 | Saccadic smooth pursuit |
| HP:0000617 | Abnormality of ocular smooth pursuit |
| HP:0007943 | Congenital stapes ankylosis |
| HP:0000381 | Stapes ankylosis |
| HP:0008628 | Abnormality of the stapes |
| HP:0007942 | Internal ophthalmoplegia |
| HP:0007941 | Limited extraocular movements |
| HP:0007948 | Dense posterior cortical cataract |
| HP:0010924 | Posterior cortical cataract |
| HP:0100019 | Cortical cataract |
| HP:0007947 | Pericentral retinitis pigmentosa |
| HP:0000510 | Rod-cone dystrophy |
| HP:0007946 | Unilateral narrow palpebral fissure |
| HP:0000581 | Blepharophimosis |
| HP:0012745 | Short palpebral fissure |
| HP:0045025 | Narrow palpebral fissure |
| HP:0200007 | Abnormal size of the palpebral fissures |
| HP:0008050 | Abnormality of the palpebral fissures |
| HP:0007950 | Peripapillary chorioretinal atrophy |
| http://purl.obolibrary.org/obo/GO_0071887 | leukocyte apoptotic process |
| http://purl.obolibrary.org/obo/GO_0006915 | apoptotic process |
| http://purl.obolibrary.org/obo/GO_0012501 | programmed cell death |
| http://purl.obolibrary.org/obo/GO_0008219 | cell death |
| HP:0007958 | Optic atrophy from cranial nerve compression |
| HP:0000648 | Optic atrophy |
| HP:0012795 | Abnormality of the optic disc |
| HP:0000587 | Abnormality of the optic nerve |
| HP:0001293 | Cranial nerve compression |
| HP:0001291 | Abnormal cranial nerve morphology |
| http://purl.obolibrary.org/obo/GO_0044262 | cellular carbohydrate metabolic process |
| HP:0005300 | Nodular inflammatory vasculitis |
| HP:0007962 | Speckled corneal dystrophy |
| HP:0001131 | Corneal dystrophy |
| HP:0000482 | Microcornea |
| HP:0001120 | Abnormality of corneal size |
| HP:0005305 | Cerebral venous thrombosis |
| HP:0007965 | Undetectable visual evoked potentials |
| HP:0005307 | Postural hypotension with compensatory tachycardia |
| HP:0001278 | Orthostatic hypotension |
| HP:0002615 | Hypotension |
| HP:0007964 | Degenerative vitreoretinopathy |
| HP:0005308 | Pulmonary artery vasoconstriction |
| HP:0005301 | Persistent left superior vena cava |
| HP:0025575 | Abnormal superior vena cava morphology |
| HP:0005302 | Carotid artery tortuosity |
| HP:0005116 | Arterial tortuosity |
| HP:0004948 | Vascular tortuosity |
| HP:0005303 | Aortic arch calcification |
| HP:0004962 | Thoracic aorta calcification |
| HP:0004963 | Calcification of the aorta |
| HP:0005304 | Hypoplastic pulmonary veins |
| HP:0005310 | Large vessel vasculitis |
| http://purl.obolibrary.org/obo/UBERON_0025261 | thalamic fiber tract |
| http://purl.obolibrary.org/obo/UBERON_0011591 | tract of diencephalon |
| HP:0005311 | Agenesis of pulmonary vessels |
| HP:0007973 | Retinal dysplasia |
| HP:0007971 | Lamellar cataract |
| HP:0005316 | Peripheral pulmonary vessel aplasia |
| HP:0005317 | Increased pulmonary vascular resistance |
| HP:0007976 | Cerulean cataract |
| HP:0007648 | Punctate cataract |
| HP:0010920 | Zonular cataract |
| HP:0005318 | Cerebral vasculitis |
| HP:0007975 | Hypometric horizontal saccades |
| HP:0000571 | Hypometric saccades |
| HP:0000570 | Abnormal saccadic eye movements |
| HP:0005312 | Pulmonary aterial intimal fibrosis |
| HP:0005313 | Arterial fibromuscular dysplasia |
| HP:0005314 | Anomalous branches of internal carotid artery |
| HP:0007979 | Gaze-evoked horizontal nystagmus |
| HP:0000640 | Gaze-evoked nystagmus |
| HP:0000666 | Horizontal nystagmus |
| HP:0007906 | Ocular hypertension |
| HP:0012633 | Asymmetry of intraocular pressure |
| HP:0012632 | Abnormal intraocular pressure |
| http://purl.obolibrary.org/obo/GO_0140014 | mitotic nuclear division |
| http://purl.obolibrary.org/obo/GO_1903047 | mitotic cell cycle process |
| HP:0007905 | Abnormal iris vasculature |
| http://purl.obolibrary.org/obo/UBERON_0013280 | diaphysis of tibia |
| HP:0032928 | Elevated CSF neurofilamant light chain |
| HP:0032927 | Focal impaired awareness undressing automatism seizure |
| HP:0007900 | Hypoplastic lacrimal duct |
| HP:0032922 | Focal impaired awareness perseverative automatism seizure |
| HP:0032921 | Focal impaired awareness pedal automatism seizure |
| HP:0032920 | Focal impaired awareness manual automatism seizure |
| HP:0032926 | Focal impaired awareness head nodding automatism seizure |
| HP:0007903 | Paravenous chorioretinal atrophy |
| HP:0032925 | Focal impaired awareness sexual automatism seizure |
| HP:0007902 | Vitreous hemorrhage |
| HP:0011885 | Hemorrhage of the eye |
| HP:0032924 | Focal impaired awareness verbal automatism seizure |
| HP:0032923 | Focal impaired awareness vocal automatism seizure |
| HP:0007917 | Tractional retinal detachment |
| HP:0032919 | Focal aware head nodding automatism seizure |
| HP:0032918 | Focal impaired awareness orofacial automatism seizure |
| HP:0032917 | Focal aware sexual automatism seizure |
| HP:0032916 | Focal aware verbal automatism seizure |
| HP:0032911 | Focal aware orofacial automatism seizure |
| HP:0007911 | Congenital bilateral ptosis |
| HP:0001488 | Bilateral ptosis |
| HP:0007970 | Congenital ptosis |
| HP:0000508 | Ptosis |
| http://purl.obolibrary.org/obo/GO_0046887 | positive regulation of hormone secretion |
| http://purl.obolibrary.org/obo/GO_1903532 | positive regulation of secretion by cell |
| HP:0007915 | Polymorphous posterior corneal dystrophy |
| HP:0011489 | Abnormal migration of corneal endothelium |
| HP:0011491 | Reduced number of corneal endothelial cells |
| HP:0011488 | Abnormal corneal endothelium morphology |
| HP:0032915 | Focal aware vocal automatism seizure |
| http://purl.obolibrary.org/obo/GO_0046888 | negative regulation of hormone secretion |
| http://purl.obolibrary.org/obo/GO_1903531 | negative regulation of secretion by cell |
| http://purl.obolibrary.org/obo/GO_0051048 | negative regulation of secretion |
| HP:0032914 | Focal aware perseverative automatism seizure |
| http://purl.obolibrary.org/obo/CHEBI_36299 | tricarboxylic acid monoanion |
| HP:0007913 | Reticular retinal dystrophy |
| HP:0007963 | Pattern dystrophy of the retina |
| HP:0032913 | Focal aware pedal automatism seizure |
| HP:0032912 | Focal aware manual automatism seizure |
| HP:0007929 | Peripheral retinal detachment |
| HP:0000541 | Retinal detachment |
| http://purl.obolibrary.org/obo/GO_0046883 | regulation of hormone secretion |
| http://purl.obolibrary.org/obo/GO_1903530 | regulation of secretion by cell |
| HP:0032908 | Focal aware undressing automatism seizure |
| HP:0032910 | Focal aware automatism seizure |
| HP:0032907 | Focal undressing automatism seizure |
| HP:0032906 | Focal head nodding automatism seizure |
| HP:0032905 | Focal sexual automatism seizure |
| HP:0032909 | Focal impaired awareness automatism seizure |
| HP:0032712 | Focal motor impaired awareness seizure |
| HP:0007922 | Hypermyelinated retinal nerve fibers |
| HP:0020119 | Abnormal retinal nerve fiber layer morphology |
| HP:0032900 | Focal manual automatism seizure |
| http://purl.obolibrary.org/obo/GO_0046878 | positive regulation of saliva secretion |
| http://purl.obolibrary.org/obo/GO_0060456 | positive regulation of digestive system process |
| http://purl.obolibrary.org/obo/GO_0051047 | positive regulation of secretion |
| HP:0032904 | Focal verbal automatism seizure |
| http://purl.obolibrary.org/obo/GO_0046877 | regulation of saliva secretion |
| http://purl.obolibrary.org/obo/GO_0051046 | regulation of secretion |
| http://purl.obolibrary.org/obo/GO_0044058 | regulation of digestive system process |
| http://purl.obolibrary.org/obo/GO_0044057 | regulation of system process |
| HP:0007925 | Lacrimal duct aplasia |
| HP:0032903 | Focal vocal automatism seizure |
| HP:0032902 | Focal perseverative automatism seizure |
| HP:0007924 | Slow decrease in visual acuity |
| HP:0000529 | Progressive visual loss |
| HP:0000572 | Visual loss |
| HP:0032901 | Focal pedal automatism seizure |
| HP:0007939 | Blue cone monochromacy |
| HP:0011517 | Cone monochromacy |
| HP:0007803 | Monochromacy |
| HP:0007933 | Broad lateral eyebrow |
| HP:0011229 | Broad eyebrow |
| HP:0007932 | Bilateral congenital mydriasis |
| HP:0011499 | Mydriasis |
| HP:0007686 | Abnormal pupillary function |
| HP:0007937 | Reticular pigmentary degeneration |
| HP:0007936 | Restrictive external ophthalmoplegia |
| HP:0000544 | External ophthalmoplegia |
| HP:0007935 | Juvenile posterior subcapsular lenticular opacities |
| HP:0007787 | Posterior subcapsular cataract |
| HP:0000523 | Subcapsular cataract |
| HP:0000518 | Cataract |
| http://purl.obolibrary.org/obo/UBERON_0013240 | future glans clitoris |
| HP:0030300 | 10 pairs of ribs |
| HP:0000921 | Missing ribs |
| HP:0006712 | Aplasia/Hypoplasia of the ribs |
| HP:0006711 | Aplasia/Hypoplasia involving bones of the thorax |
| HP:0032962 | Tubular microcystic change |
| HP:0032961 | Magnesium ammonium phosphate crystalluria |
| http://purl.obolibrary.org/obo/UBERON_0013241 | embryonic urethral groove |
| HP:0032960 | Intratubular calcium phosphate casts |
| http://purl.obolibrary.org/obo/UBERON_0001267 | femoral nerve |
| http://purl.obolibrary.org/obo/UBERON_0001269 | acetabular part of hip bone |
| http://purl.obolibrary.org/obo/UBERON_0001268 | peritoneal fluid |
| http://purl.obolibrary.org/obo/UBERON_0036217 | coelomic fluid |
| HP:0005363 | Humoral immunodeficiency |
| HP:0005365 | Severe B lymphocytopenia |
| http://purl.obolibrary.org/obo/UBERON_0001261 | lamina propria of urinary bladder |
| HP:0005366 | Recurrent streptococcus pneumoniae infections |
| HP:0020096 | Recurrent streptococcal infections |
| http://purl.obolibrary.org/obo/UBERON_0001260 | serosa of urinary bladder |
| HP:0030309 | Flared distal fibular metaphysis |
| http://purl.obolibrary.org/obo/UBERON_0001263 | pancreatic acinus |
| HP:0005360 | Susceptibility to chickenpox |
| http://purl.obolibrary.org/obo/UBERON_0001265 | trabecula of spleen |
| http://purl.obolibrary.org/obo/UBERON_0001264 | pancreas |
| http://purl.obolibrary.org/obo/UBERON_0013247 | male paramesonephric duct |
| HP:0032966 | Centrilobular emphysema |
| HP:0030306 | 11 thoracic vertebrae |
| HP:0030305 | Decreased number of vertebrae |
| HP:0032965 | Interstitial emphysema |
| HP:0032964 | Uric acid crystalluria |
| HP:0020074 | Crystalluria |
| HP:0030308 | Flared distal tibial metaphysis |
| HP:0030307 | Flared lower limb metaphysis |
| HP:0032963 | Complex renal cyst |
| HP:0030302 | Agenesis of the anterior commissure |
| HP:0032969 | Traction bronchiectasis |
| HP:0005369 | Decreased serum complement factor H |
| HP:0030303 | Hypoplastic anterior commissure |
| HP:0030301 | Abnormality of the anterior commissure |
| HP:0410401 | Worse in evening |
| HP:0032968 | Expiratory air trapping |
| HP:0030304 | Abnormal number of vertebrae |
| http://purl.obolibrary.org/obo/CHEBI_85234 | human blood serum metabolite |
| http://purl.obolibrary.org/obo/CHEBI_77746 | human metabolite |
| HP:0410400 | Absent sebaceous glands |
| HP:0032226 | Abnormal sebaceous gland morphology |
| HP:0032967 | Panacinar emphysema |
| HP:0002097 | Emphysema |
| http://purl.obolibrary.org/obo/GO_0007283 | spermatogenesis |
| http://purl.obolibrary.org/obo/GO_0048232 | male gamete generation |
| HP:0032950 | Abnormal renal tubular lumen morphology |
| http://purl.obolibrary.org/obo/GO_0007286 | spermatid development |
| http://purl.obolibrary.org/obo/GO_0007281 | germ cell development |
| http://purl.obolibrary.org/obo/GO_0048468 | cell development |
| http://purl.obolibrary.org/obo/GO_0007288 | sperm axoneme assembly |
| http://purl.obolibrary.org/obo/GO_0035082 | axoneme assembly |
| http://purl.obolibrary.org/obo/GO_0001578 | microtubule bundle formation |
| http://purl.obolibrary.org/obo/GO_0000226 | microtubule cytoskeleton organization |
| http://purl.obolibrary.org/obo/GO_0007010 | cytoskeleton organization |
| http://purl.obolibrary.org/obo/UBERON_0001279 | portal triad |
| http://purl.obolibrary.org/obo/GO_0007289 | spermatid nucleus differentiation |
| http://purl.obolibrary.org/obo/GO_0006997 | nucleus organization |
| http://purl.obolibrary.org/obo/UBERON_0001270 | bony pelvis |
| HP:0005376 | Recurrent Haemophilus influenzae infections |
| http://purl.obolibrary.org/obo/UBERON_0001272 | innominate bone |
| http://purl.obolibrary.org/obo/UBERON_0010428 | flat bone |
| http://purl.obolibrary.org/obo/UBERON_0001271 | pelvic girdle region |
| http://purl.obolibrary.org/obo/UBERON_0007823 | appendage girdle region |
| http://purl.obolibrary.org/obo/UBERON_0001274 | ischium |
| http://purl.obolibrary.org/obo/UBERON_0015056 | ischial endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001273 | ilium |
| http://purl.obolibrary.org/obo/UBERON_0015054 | iliac endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001276 | epithelium of stomach |
| http://purl.obolibrary.org/obo/UBERON_0001275 | pubis |
| http://purl.obolibrary.org/obo/UBERON_0008202 | bone of hip region |
| http://purl.obolibrary.org/obo/UBERON_0015055 | pubic endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0007830 | pelvic girdle bone/zone |
| HP:0032955 | Renal tubular polyoma virus inclusions |
| HP:0032954 | Renal tubular adenovirus inclusions |
| HP:0032953 | Renal tubular cytomegalovirus inclusions |
| HP:0032952 | Usual-type tubular atrophy |
| HP:0000092 | Renal tubular atrophy |
| HP:0032599 | Abnormal renal tubular epithelial morphology |
| HP:0032959 | Intratubular calcium oxalate casts |
| HP:0032623 | Renal intratubular casts |
| HP:0032958 | Urinary oval fat bodies |
| HP:0032957 | Dysmorphic hematuria |
| HP:0000790 | Hematuria |
| HP:0012614 | Abnormal urine cytology |
| HP:0032956 | Renal tubular herpes simplex virus inclusions |
| HP:0032951 | Renal tubular viral cytopathic changes |
| HP:0032940 | Dissociative reaction |
| HP:0005390 | Recurrent opportunistic infections |
| HP:0031690 | Opportunistic infection |
| http://purl.obolibrary.org/obo/UBERON_0001281 | hepatic sinusoid |
| http://purl.obolibrary.org/obo/UBERON_0003909 | sinusoid |
| HP:0005386 | Recurrent protozoan infections |
| http://purl.obolibrary.org/obo/UBERON_0001280 | liver parenchyma |
| http://purl.obolibrary.org/obo/UBERON_0000353 | parenchyma |
| HP:0005387 | Combined immunodeficiency |
| http://purl.obolibrary.org/obo/UBERON_0001282 | intralobular bile duct |
| http://purl.obolibrary.org/obo/UBERON_0014716 | interlobular duct |
| http://purl.obolibrary.org/obo/UBERON_0035050 | excretory duct |
| HP:0032949 | Renal interstitial calcium phosphate deposits |
| HP:0032644 | Renal interstitial deposits |
| HP:0005381 | Recurrent meningococcal disease |
| http://purl.obolibrary.org/obo/UBERON_0001285 | nephron |
| HP:0032944 | Alkaline urine |
| HP:0032942 | Avoidance of stimuli associated with traumatic event |
| HP:0032941 | Intense psychological distress to cues |
| HP:0005389 | Depletion of components of the alternative complement pathway |
| http://purl.obolibrary.org/obo/CHEBI_38867 | anaesthetic |
| HP:0032948 | Renal interstitial fibrosis |
| HP:0032947 | Renal medullary interstitial inflammation |
| HP:0032946 | Renal cortical interstitial inflammation |
| HP:0032945 | Renal interstitial inflammation |
| http://purl.obolibrary.org/obo/CHEBI_26878 | tertiary alcohol |
| http://purl.obolibrary.org/obo/UBERON_0001299 | glans penis |
| http://purl.obolibrary.org/obo/UBERON_0035651 | glans |
| HP:0005396 | Susceptibility to coronavirus 229e |
| http://purl.obolibrary.org/obo/UBERON_0001294 | inner medulla of kidney |
| HP:0032939 | Physiological reactivity to cues |
| HP:0032938 | Recurrent trauma-related distressing dreams |
| http://purl.obolibrary.org/obo/UBERON_0001295 | endometrium |
| http://purl.obolibrary.org/obo/UBERON_0019042 | reproductive system mucosa |
| HP:0032933 | Airway hyperresponsiveness |
| HP:0032932 | Increased circulating pancreatic triacylglycerol lipase level |
| http://purl.obolibrary.org/obo/UBERON_0013279 | diaphysis of fibula |
| HP:0032930 | Lacunar halos around chondrocytes |
| HP:0032937 | Recurrent, involuntary and intrusive distressing memories |
| HP:0032936 | Intrusion symptom |
| HP:0032935 | Posterior crocodile shagreen of the cornea |
| HP:0007881 | Central corneal dystrophy |
| HP:0011493 | Central opacification of the cornea |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0007957 | Corneal opacity |
| HP:0011492 | Abnormality of corneal stroma |
| HP:0032934 | Spontaneous cerebrospinal fluid leak |
| HP:0030341 | Decreased circulating follicle stimulating hormone level |
| HP:0030344 | Decreased circulating luteinizing hormone level |
| http://purl.obolibrary.org/obo/UBERON_0015860 | visceral abdominal lymph node |
| http://purl.obolibrary.org/obo/UBERON_0002507 | abdominal lymph node |
| http://purl.obolibrary.org/obo/UBERON_0001223 | left ureter |
| http://purl.obolibrary.org/obo/UBERON_0003885 | mesometrium |
| http://purl.obolibrary.org/obo/UBERON_0001297 | serosa of uterus |
| http://purl.obolibrary.org/obo/UBERON_0001222 | right ureter |
| http://purl.obolibrary.org/obo/UBERON_0000056 | ureter |
| http://purl.obolibrary.org/obo/UBERON_0003886 | future coelemic cavity lumen |
| http://purl.obolibrary.org/obo/UBERON_0001225 | cortex of kidney |
| http://purl.obolibrary.org/obo/UBERON_0003887 | intraembryonic coelom |
| http://purl.obolibrary.org/obo/UBERON_0001224 | renal pelvis |
| http://purl.obolibrary.org/obo/UBERON_0003889 | fallopian tube |
| http://purl.obolibrary.org/obo/UBERON_0013515 | subdivision of oviduct |
| http://purl.obolibrary.org/obo/UBERON_0001229 | renal corpuscle |
| http://purl.obolibrary.org/obo/UBERON_0001228 | renal papilla |
| HP:0007980 | Absent retinal pigment epithelium |
| HP:0007894 | Hypopigmentation of the fundus |
| HP:0005320 | Lack of facial subcutaneous fat |
| HP:0007485 | Absence of subcutaneous fat |
| HP:0008887 | Adipose tissue loss |
| HP:0003717 | Minimal subcutaneous fat |
| HP:0000291 | Abnormality of facial adipose tissue |
| HP:0005321 | Mandibulofacial dysostosis |
| HP:0004439 | Craniofacial dysostosis |
| http://purl.obolibrary.org/obo/GO_0032270 | positive regulation of cellular protein metabolic process |
| http://purl.obolibrary.org/obo/GO_0051247 | positive regulation of protein metabolic process |
| http://purl.obolibrary.org/obo/GO_0051173 | positive regulation of nitrogen compound metabolic process |
| HP:0005322 | Prominent nasal septum |
| HP:0000419 | Abnormality of the nasal septum |
| HP:0007984 | Electronegative electroretinogram |
| http://purl.obolibrary.org/obo/UBERON_0001221 | transversus abdominis muscle |
| http://purl.obolibrary.org/obo/UBERON_0002461 | anterior abdominal wall muscle |
| http://purl.obolibrary.org/obo/UBERON_0002378 | muscle of abdomen |
| HP:0005327 | Loss of facial expression |
| HP:0007988 | Macular hypopigmentation |
| HP:0005328 | Progeroid facial appearance |
| HP:0007495 | Prematurely aged appearance |
| HP:0007987 | Progressive visual field defects |
| HP:0005329 | Fixed facial expression |
| HP:0004673 | Decreased facial expression |
| HP:0007986 | Increased retinal vascularity |
| HP:0007985 | Retinal arteriolar occlusion |
| HP:0000630 | Abnormal retinal artery morphology |
| HP:0005323 | Hemifacial hypertrophy |
| HP:0000324 | Facial asymmetry |
| HP:0030345 | Abnormal circulating luteinizing hormone level |
| HP:0030346 | Abnormal circulating follicle-stimulating hormone level |
| HP:0005325 | Extension of hair growth on temples to lateral eyebrow |
| HP:0000599 | Abnormality of the frontal hairline |
| HP:0009553 | Abnormality of the hairline |
| HP:0011361 | Congenital abnormal hair pattern |
| HP:0005326 | Hypoplastic philtrum |
| HP:0000288 | Abnormality of the philtrum |
| HP:0030348 | Increased circulating androgen level |
| HP:0007989 | Intraretinal exudate |
| HP:0001147 | Retinal exudate |
| HP:0030330 | Multinucleated giant chondrocytes in epiphyseal cartilage |
| HP:0032929 | Abnormal chondrocyte morphology |
| HP:0030331 | Impaired stimulus-induced skin wrinkling |
| HP:0032990 | Localized pulmonary hemorrhage |
| http://purl.obolibrary.org/obo/UBERON_0015871 | facial lymph node |
| HP:0032995 | Decreased pulmonary fissure count |
| http://purl.obolibrary.org/obo/UBERON_0015870 | lymph node of head |
| HP:0032994 | Supernumerary pulmonary fissure |
| http://purl.obolibrary.org/obo/UBERON_0015873 | heel skin |
| http://purl.obolibrary.org/obo/UBERON_0001512 | skin of ankle |
| HP:0032993 | Abnormal pulmonary fissure count |
| HP:0032992 | Abnormal pulmonary fissure architecture |
| HP:0032991 | Abnormal pulmonary fissure morphology |
| HP:0002103 | Abnormal pleura morphology |
| http://purl.obolibrary.org/obo/UBERON_0001234 | left adrenal gland |
| http://purl.obolibrary.org/obo/UBERON_0003895 | hypaxial myotome region |
| http://purl.obolibrary.org/obo/PR_Q8K010 | 5-oxoprolinase (mouse) |
| http://purl.obolibrary.org/obo/PR_000011649 | 5-oxoprolinase |
| http://purl.obolibrary.org/obo/UBERON_0001233 | right adrenal gland |
| http://purl.obolibrary.org/obo/UBERON_0002369 | adrenal gland |
| http://purl.obolibrary.org/obo/UBERON_0006858 | adrenal/interrenal gland |
| http://purl.obolibrary.org/obo/UBERON_0001236 | adrenal medulla |
| http://purl.obolibrary.org/obo/UBERON_0003897 | axial muscle |
| http://purl.obolibrary.org/obo/UBERON_0001235 | adrenal cortex |
| http://purl.obolibrary.org/obo/UBERON_0003898 | skeletal muscle tissue of trunk |
| HP:0007990 | Hypoplastic iris stroma |
| HP:0007676 | Hypoplasia of the iris |
| HP:0008053 | Aplasia/Hypoplasia of the iris |
| HP:0000525 | Abnormality iris morphology |
| HP:0008055 | Aplasia/Hypoplasia affecting the uvea |
| HP:0005332 | Recurrent mandibular subluxations |
| http://purl.obolibrary.org/obo/UBERON_0003890 | Mullerian duct |
| http://purl.obolibrary.org/obo/UBERON_0001230 | glomerular capsule |
| http://purl.obolibrary.org/obo/UBERON_0003891 | stroma |
| HP:0007994 | Peripheral visual field loss |
| http://purl.obolibrary.org/obo/GO_0032286 | central nervous system myelin maintenance |
| http://purl.obolibrary.org/obo/UBERON_0001232 | collecting duct of renal tubule |
| http://purl.obolibrary.org/obo/UBERON_0003893 | capsule |
| HP:0007993 | Malformed lacrimal duct |
| http://purl.obolibrary.org/obo/UBERON_0003894 | liver primordium |
| http://purl.obolibrary.org/obo/UBERON_0009497 | epithelium of foregut-midgut junction |
| http://purl.obolibrary.org/obo/UBERON_0001231 | nephron tubule |
| http://purl.obolibrary.org/obo/UBERON_0004211 | nephron epithelium |
| http://purl.obolibrary.org/obo/UBERON_0004819 | kidney epithelium |
| http://purl.obolibrary.org/obo/UBERON_0009773 | renal tubule |
| http://purl.obolibrary.org/obo/UBERON_0006555 | excretory tube |
| HP:0007992 | Lattice retinal degeneration |
| HP:0007769 | Peripheral retinal degeneration |
| HP:0005338 | Sparse lateral eyebrow |
| HP:0045075 | Sparse eyebrow |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
| http://purl.obolibrary.org/obo/UBERON_0015875 | heel |
| http://purl.obolibrary.org/obo/UBERON_0005445 | segment of pes |
| http://purl.obolibrary.org/obo/UBERON_0012139 | segment of autopod |
| HP:0032999 | Increased fecal porphyrin |
| HP:0032483 | Abnormal fecal test result |
| HP:0030339 | Decreased circulating gonadotropin level |
| HP:0030338 | Abnormal circulating gonadotropin level |
| HP:0032998 | Increased cystatin C level |
| HP:0032997 | Decreased cystatin C level |
| HP:0032996 | Abnormal cystatin C level |
| HP:0005335 | Sleepy facial expression |
| HP:0005336 | Forehead hyperpigmentation |
| HP:0030336 | Absence of CD4-positive, CD25-positive regulatory T cells |
| HP:0030337 | Elevated CD4-positive, CD25-positive regulatory T cell count |
| HP:0030335 | Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count |
| HP:0030334 | Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology |
| HP:0030333 | Abnormal alpha-beta T cell morphology |
| HP:0032980 | Absent bronchoalveolar surfactant-protein C |
| HP:0030320 | Increased intervertebral space |
| HP:0032983 | Atoll sign |
| HP:0032982 | Intraalveolar phospholipid accumulation |
| HP:0032981 | Absent bronchoalveolar dimeric surfactant-protein B |
| http://purl.obolibrary.org/obo/UBERON_0001245 | anus |
| http://purl.obolibrary.org/obo/GO_0032287 | peripheral nervous system myelin maintenance |
| http://purl.obolibrary.org/obo/GO_0043217 | myelin maintenance |
| http://purl.obolibrary.org/obo/GO_0007009 | plasma membrane organization |
| http://purl.obolibrary.org/obo/UBERON_0001247 | falciform ligament |
| http://purl.obolibrary.org/obo/GO_0032289 | central nervous system myelin formation |
| http://purl.obolibrary.org/obo/UBERON_0001246 | interlobular bile duct |
| http://purl.obolibrary.org/obo/UBERON_0001249 | spleen lymphoid follicle |
| http://purl.obolibrary.org/obo/UBERON_0000444 | lymphoid follicle |
| http://purl.obolibrary.org/obo/GO_0032291 | axon ensheathment in central nervous system |
| HP:0005341 | Autonomic bladder dysfunction |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| http://purl.obolibrary.org/obo/GO_0032290 | peripheral nervous system myelin formation |
| http://purl.obolibrary.org/obo/GO_0032288 | myelin assembly |
| HP:0005343 | Hypoplasia of the bladder |
| HP:0010476 | Aplasia/Hypoplasia of the bladder |
| http://purl.obolibrary.org/obo/GO_0032292 | peripheral nervous system axon ensheathment |
| http://purl.obolibrary.org/obo/GO_0008366 | axon ensheathment |
| http://purl.obolibrary.org/obo/CHEBI_24261 | glucocorticoid |
| HP:0005340 | Spastic/hyperactive bladder |
| HP:0000009 | Functional abnormality of the bladder |
| HP:0005349 | Hypoplasia of the epiglottis |
| HP:0010565 | Aplasia/Hypoplasia of the Epiglottis |
| HP:0032988 | Persistent head lag |
| HP:0030328 | Decreased osteoclast count |
| HP:0030327 | Abnormal osteoclast count |
| HP:0032987 | Elevated bronchoalveolar lavage fluid eosinophil proportion |
| HP:0030329 | Retinal thinning |
| HP:0032986 | Smoker-inclusions in alveolar macrophages |
| HP:0032985 | Dust particle inclusion in alveolar macrophages |
| HP:0005345 | Abnormal vena cava morphology |
| HP:0030323 | Unilateral vertebral artery hypoplasia |
| http://purl.obolibrary.org/obo/CHEBI_36242 | 3-(4-hydroxyphenyl)pyruvate |
| http://purl.obolibrary.org/obo/CHEBI_35179 | 2-oxo monocarboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_35902 | oxo monocarboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_35903 | oxo carboxylic acid anion |
| HP:0030324 | Bilateral vertebral artery hypoplasia |
| HP:0030322 | Vertebral artery hypoplasia |
| HP:0030321 | Abnormal vertebral artery morphology |
| HP:0005347 | Cartilaginous trachea |
| HP:0002778 | Abnormal trachea morphology |
| HP:0030325 | Cervicomedullary schisis |
| HP:0032989 | Delayed ability to roll over |
| HP:0002194 | Delayed gross motor development |
| HP:0001270 | Motor delay |
| HP:0012758 | Neurodevelopmental delay |
| HP:0012759 | Neurodevelopmental abnormality |
| http://purl.obolibrary.org/obo/UBERON_0013228 | sweat gland of eyelid |
| http://purl.obolibrary.org/obo/UBERON_0000382 | apocrine sweat gland |
| http://purl.obolibrary.org/obo/UBERON_0010243 | merocrine gland |
| http://purl.obolibrary.org/obo/UBERON_0001820 | sweat gland |
| HP:0030326 | Abnormal macrophage count |
| HP:0030311 | Lower extremity joint dislocation |
| http://purl.obolibrary.org/obo/UBERON_0013232 | serous acinus |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=553 | AOX1 (human) |
| HP:0032972 | Nodular-centrilobular without tree-in-bud pattern on pulmonary HRCT |
| HP:0025392 | Nodular pattern on pulmonary HRCT |
| HP:0032971 | Computed tomographic halo sign |
| HP:0025179 | Ground-glass opacification on pulmonary HRCT |
| HP:0031457 | Pulmonary opacity |
| http://purl.obolibrary.org/obo/UBERON_0013231 | sebaceous gland of eyelid |
| http://purl.obolibrary.org/obo/UBERON_0013229 | eyelid gland |
| HP:0032970 | Traction bronchiolectasis |
| http://purl.obolibrary.org/obo/UBERON_0001256 | wall of urinary bladder |
| http://purl.obolibrary.org/obo/UBERON_0001255 | urinary bladder |
| http://purl.obolibrary.org/obo/UBERON_0018707 | bladder organ |
| http://purl.obolibrary.org/obo/UBERON_0000489 | cavitated compound organ |
| http://purl.obolibrary.org/obo/UBERON_0001258 | neck of urinary bladder |
| http://purl.obolibrary.org/obo/UBERON_0001259 | mucosa of urinary bladder |
| HP:0005352 | Severe T-cell immunodeficiency |
| HP:0005374 | Cellular immunodeficiency |
| HP:0005354 | Lack of T cell function |
| http://purl.obolibrary.org/obo/UBERON_0001252 | adventitia of ureter |
| http://purl.obolibrary.org/obo/UBERON_0001253 | lamina propria of ureter |
| HP:0032977 | Elevated bronchoalveolar lavage fluid neutrophil proportion |
| HP:0032976 | Elevated bronchoalveolar lavage fluid lymphocyte proportion |
| HP:0030318 | Angular cheilitis |
| HP:0100825 | Cheilitis |
| HP:0032975 | Abnormal bronchoalveolar fluid protein level |
| http://purl.obolibrary.org/obo/UBERON_0013235 | ventrum |
| HP:0030319 | Weakness of facial musculature |
| http://purl.obolibrary.org/obo/CHEBI_36238 | 5beta-cholanic acid |
| http://purl.obolibrary.org/obo/CHEBI_36237 | cholanic acid |
| HP:0005356 | Decreased serum complement factor I |
| HP:0030312 | Obliteration of the calvarial diploe |
| HP:0005357 | Defective B cell differentiation |
| HP:0005384 | Defective B cell activation |
| HP:0030314 | Periostosis |
| http://purl.obolibrary.org/obo/CHEBI_36233 | disaccharide |
| http://purl.obolibrary.org/obo/CHEBI_50699 | oligosaccharide |
| HP:0032979 | Hemosiderin-laden macrophages in bronchoalveolar fluid |
| HP:0005359 | Aplasia of the thymus |
| HP:0010515 | Aplasia/Hypoplasia of the thymus |
| http://purl.obolibrary.org/obo/UBERON_0013239 | future glans penis |
| http://purl.obolibrary.org/obo/UBERON_0013238 | future glans |
| HP:0032978 | Lipid-laden macrophages in bronchoalveolar fluid |
| HP:0032984 | Abnormal alveolar macrophage morphology |
| HP:0032974 | Abnormal cellular composition of bronchoalveolar fluid |
| HP:0032973 | Abnormal bronchoalveolar lavage fluid morphology |
| http://purl.obolibrary.org/obo/UBERON_0003848 | gonadal vein |
| HP:0030265 | Wide penis |
| HP:0030264 | Webbed penis |
| http://purl.obolibrary.org/obo/UBERON_0003849 | mesencephalic neural crest |
| HP:0030267 | Calcification of the interosseus membrane of the forearm |
| HP:0030260 | Microphallus |
| HP:0008736 | Hypoplasia of penis |
| HP:0000050 | Hypoplastic male external genitalia |
| HP:0030261 | Absent penis |
| HP:0030262 | Narrow penis |
| HP:0030263 | Torsion of the penis |
| http://purl.obolibrary.org/obo/UBERON_0003842 | neural tube lumen |
| http://purl.obolibrary.org/obo/UBERON_0003844 | upper eyelid epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003845 | lower eyelid epithelium |
| http://purl.obolibrary.org/obo/UBERON_0035034 | eyelid epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003846 | thymus epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003847 | thyroid artery |
| HP:0030268 | Hyperplastic callus formation |
| HP:0030269 | Increased serum insulin-like growth factor 1 |
| HP:0030253 | Defective T cell proliferation |
| HP:0031379 | Abnormal T cell proliferation |
| HP:0031378 | Abnormal lymphocyte proliferation |
| HP:0031377 | Abnormal cell proliferation |
| HP:0030254 | Nail bed hemorrhage |
| HP:0030255 | Large intestinal polyposis |
| HP:0030256 | Small intestinal polyposis |
| HP:0200008 | Intestinal polyposis |
| HP:0005266 | Intestinal polyp |
| HP:0030250 | Pulmonary granulomatosis |
| HP:0030251 | Absence of memory B cells |
| HP:0030252 | Absence of mature B cells |
| HP:0010976 | B lymphocytopenia |
| http://purl.obolibrary.org/obo/UBERON_0003851 | diencephalon neural crest |
| http://purl.obolibrary.org/obo/UBERON_0003852 | rhombencephalon neural crest |
| http://purl.obolibrary.org/obo/UBERON_0003853 | spinal cord neural crest |
| http://purl.obolibrary.org/obo/UBERON_0003854 | spinal cord neural plate |
| http://purl.obolibrary.org/obo/UBERON_0003075 | neural plate |
| http://purl.obolibrary.org/obo/UBERON_0003857 | upper eyelid mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003858 | lower eyelid mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010330 | eyelid mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0015839 | molar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0015838 | molar dental pulp |
| http://purl.obolibrary.org/obo/UBERON_0003850 | telencephalon neural crest |
| http://purl.obolibrary.org/obo/UBERON_0002342 | neural crest |
| HP:0030257 | Freckled genitalia |
| HP:0030258 | Hyperpigmented genitalia |
| http://purl.obolibrary.org/obo/UBERON_0015834 | duodenum lamina propria |
| http://purl.obolibrary.org/obo/UBERON_0001238 | lamina propria of small intestine |
| http://purl.obolibrary.org/obo/UBERON_0004780 | gastrointestinal system lamina propria |
| http://purl.obolibrary.org/obo/UBERON_0000030 | lamina propria |
| HP:0030259 | Hypopigmented genitalia |
| HP:0012293 | Abnormal genital pigmentation |
| http://purl.obolibrary.org/obo/UBERON_0015837 | incisor dental pulp |
| http://purl.obolibrary.org/obo/UBERON_0001754 | dental pulp |
| http://purl.obolibrary.org/obo/UBERON_0011825 | loose connective tissue |
| HP:0030242 | Portal vein thrombosis |
| http://purl.obolibrary.org/obo/GO_0010876 | lipid localization |
| HP:0030243 | Hepatic vein thrombosis |
| HP:0030245 | Intrapartum fever |
| http://purl.obolibrary.org/obo/GO_0010873 | positive regulation of cholesterol esterification |
| http://purl.obolibrary.org/obo/GO_0010872 | regulation of cholesterol esterification |
| HP:0030241 | Hypoplasia of deltoid muscle |
| HP:0008952 | Shoulder muscle hypoplasia |
| HP:0001464 | Aplasia/Hypoplasia involving the shoulder musculature |
| HP:0001435 | Abnormality of the shoulder girdle musculature |
| http://purl.obolibrary.org/obo/UBERON_0003862 | pedal digit 4 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015034 | pedal digit 4 phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001201 | serosa of stomach |
| http://purl.obolibrary.org/obo/UBERON_0001200 | submucosa of stomach |
| http://purl.obolibrary.org/obo/UBERON_0003863 | pedal digit 5 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015035 | pedal digit 5 phalanx endochondral element |
| http://purl.obolibrary.org/obo/GO_0009895 | negative regulation of catabolic process |
| http://purl.obolibrary.org/obo/UBERON_0003864 | middle phalanx of manus |
| http://purl.obolibrary.org/obo/GO_0009896 | positive regulation of catabolic process |
| http://purl.obolibrary.org/obo/GO_0009894 | regulation of catabolic process |
| http://purl.obolibrary.org/obo/UBERON_0001202 | pyloric sphincter |
| http://purl.obolibrary.org/obo/UBERON_0011185 | gastrointestinal sphincter |
| http://purl.obolibrary.org/obo/UBERON_0004590 | sphincter muscle |
| http://purl.obolibrary.org/obo/UBERON_0003865 | distal phalanx of manus |
| http://purl.obolibrary.org/obo/UBERON_0003866 | middle phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0004301 | middle phalanx |
| http://purl.obolibrary.org/obo/UBERON_0001204 | mucosa of small intestine |
| http://purl.obolibrary.org/obo/UBERON_0003867 | distal phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0004300 | distal phalanx |
| http://purl.obolibrary.org/obo/UBERON_0003868 | proximal phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0004302 | proximal phalanx |
| http://purl.obolibrary.org/obo/UBERON_0003869 | presumptive ganglion |
| http://purl.obolibrary.org/obo/UBERON_0003861 | neural arch |
| http://purl.obolibrary.org/obo/UBERON_0015842 | incisor enamel organ |
| http://purl.obolibrary.org/obo/UBERON_0015843 | molar enamel organ |
| http://purl.obolibrary.org/obo/UBERON_0005176 | tooth enamel organ |
| http://purl.obolibrary.org/obo/UBERON_0015846 | incisor mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003856 | uncondensed odontogenic mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0007529 | loose mesenchyme tissue |
| HP:0030246 | Maternal first trimester fever |
| HP:0030244 | Maternal fever in pregnancy |
| HP:0001945 | Fever |
| http://purl.obolibrary.org/obo/GO_0019217 | regulation of fatty acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0010565 | regulation of cellular ketone metabolic process |
| HP:0030248 | Mesenteric venous thrombosis |
| HP:0030247 | Splanchnic vein thrombosis |
| HP:0004936 | Venous thrombosis |
| HP:0030249 | Enanthema |
| http://purl.obolibrary.org/obo/UBERON_0015847 | upper left incisor tooth |
| HP:0030231 | Glycogen accumulation in muscle fiber lysosomes |
| HP:0030232 | Increased sarcoplasmic glycogen |
| HP:0009051 | Increased muscle glycogen content |
| HP:0012269 | Abnormal muscle glycogen content |
| HP:0032891 | Focal motor aware seizure with version |
| HP:0011175 | Focal motor seizure with version |
| HP:0020217 | Focal motor aware seizure |
| HP:0002349 | Focal aware seizure |
| HP:0030233 | Bethlem sign |
| HP:0032890 | Focal impaired awareness sensory seizure with somatosensory features |
| HP:0011163 | Focal sensory seizure with somatosensory features |
| HP:0030234 | Highly elevated creatine kinase |
| HP:0032896 | Music-induced seizure |
| HP:0020207 | Reflex seizure |
| HP:0032895 | Febrile seizure outside the age of 3 months to 6 years |
| HP:0032894 | Seizure precipitated by febrile infection |
| HP:0030230 | Central core regions in muscle fibers |
| HP:0032893 | Gastroenteritis-related afebrile seizure |
| HP:0032892 | Infection-related seizure |
| http://purl.obolibrary.org/obo/UBERON_0001212 | duodenal gland |
| http://purl.obolibrary.org/obo/UBERON_0011148 | submucosal gland |
| http://purl.obolibrary.org/obo/UBERON_0000414 | mucous gland |
| http://purl.obolibrary.org/obo/UBERON_0001213 | intestinal villus |
| http://purl.obolibrary.org/obo/UBERON_0001216 | jejunal vein |
| http://purl.obolibrary.org/obo/GO_0009887 | animal organ morphogenesis |
| http://purl.obolibrary.org/obo/GO_0009653 | anatomical structure morphogenesis |
| http://purl.obolibrary.org/obo/UBERON_0001215 | inferior mesenteric vein |
| http://purl.obolibrary.org/obo/UBERON_0001217 | ileal vein |
| http://purl.obolibrary.org/obo/UBERON_0002017 | portal vein |
| HP:0030239 | Hypoplasia of the upper arm musculature |
| HP:0009016 | Upper limb muscle hypoplasia |
| HP:0001467 | Aplasia/Hypoplasia involving the musculature of the upper limbs |
| HP:0009128 | Aplasia/Hypoplasia involving the musculature of the extremities |
| HP:0032899 | Focal orofacial automatism seizure |
| HP:0032898 | Focal automatism seizure |
| HP:0011153 | Focal motor seizure |
| HP:0020219 | Motor seizure |
| http://purl.obolibrary.org/obo/UBERON_0015854 | interpedicular line |
| HP:0032897 | Focal impaired awareness sensory seizure with gustatory features |
| HP:0032787 | Focal impaired awareness sensory seizure |
| HP:0032716 | Focal non-motor impaired awareness seizure |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0011160 | Focal sensory seizure with gustatory features |
| HP:0011157 | Focal sensory seizure |
| HP:0032679 | Focal non-motor seizure |
| HP:0030235 | Extremely elevated creatine kinase |
| http://purl.obolibrary.org/obo/GO_0010894 | negative regulation of steroid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0051055 | negative regulation of lipid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0045939 | negative regulation of steroid metabolic process |
| http://purl.obolibrary.org/obo/GO_0045833 | negative regulation of lipid metabolic process |
| http://purl.obolibrary.org/obo/GO_0010893 | positive regulation of steroid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0045940 | positive regulation of steroid metabolic process |
| http://purl.obolibrary.org/obo/GO_0046889 | positive regulation of lipid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0045834 | positive regulation of lipid metabolic process |
| http://purl.obolibrary.org/obo/GO_0009891 | positive regulation of biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0050810 | regulation of steroid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0019218 | regulation of steroid metabolic process |
| http://purl.obolibrary.org/obo/GO_0046890 | regulation of lipid biosynthetic process |
| HP:0005290 | Internal carotid artery hypoplasia |
| HP:0005291 | Inflammatory arteriopathy |
| HP:0002633 | Vasculitis |
| HP:0005292 | Intimal thickening in the coronary arteries |
| http://purl.obolibrary.org/obo/CHEBI_26822 | sulfide |
| http://purl.obolibrary.org/obo/CHEBI_26820 | sulfates |
| HP:0005288 | Abnormality of the nares |
| HP:0005289 | Abnormality of the nasolabial region |
| http://purl.obolibrary.org/obo/CHEBI_38807 | calcium channel agonist |
| http://purl.obolibrary.org/obo/CHEBI_38808 | calcium channel modulator |
| http://purl.obolibrary.org/obo/CHEBI_38632 | membrane transport modulator |
| http://purl.obolibrary.org/obo/CHEBI_52208 | biophysical role |
| HP:0005285 | Absent nasal bridge |
| http://purl.obolibrary.org/obo/GO_0019230 | proprioception |
| HP:0030297 | Metaphyseal chondromatosis of ulna |
| HP:0030298 | Metaphyseal chondromatosis of humerus |
| HP:0030299 | Distal femoral metaphyseal abnormality |
| http://purl.obolibrary.org/obo/GO_0019219 | regulation of nucleobase-containing compound metabolic process |
| HP:0030293 | Fibular metaphyseal irregularity |
| HP:0030294 | Metaphyseal chondromatosis of tibia |
| http://purl.obolibrary.org/obo/CHEBI_26819 | sulfuric ester |
| http://purl.obolibrary.org/obo/CHEBI_37826 | sulfuric acid derivative |
| http://purl.obolibrary.org/obo/CHEBI_33424 | sulfur oxoacid derivative |
| HP:0030295 | Metaphyseal chondromatosis of femur |
| HP:0030296 | Metaphyseal chondromatosis of radius |
| HP:0030290 | Unossified sacrum |
| HP:0025370 | Abnormal ossification of the sacrum |
| HP:0030292 | Tibial metaphyseal irregularity |
| HP:0006491 | Abnormality of the tibial metaphysis |
| HP:0005297 | Premature occlusive vascular stenosis |
| HP:0004950 | Peripheral arterial stenosis |
| HP:0100545 | Arterial stenosis |
| http://purl.obolibrary.org/obo/PR_P31996 | macrosialin (mouse) |
| http://purl.obolibrary.org/obo/PR_000002064 | macrosialin |
| http://purl.obolibrary.org/obo/PR_000001883 | lysosome-associated membrane protein |
| http://purl.obolibrary.org/obo/PR_P31997 | carcinoembryonic antigen-related cell adhesion molecule 8 (human) |
| http://purl.obolibrary.org/obo/PR_000001332 | carcinoembryonic antigen-related cell adhesion molecule 8 |
| HP:0005293 | Venous insufficiency |
| HP:0005294 | Arterial dissection |
| http://purl.obolibrary.org/obo/GO_0019221 | cytokine-mediated signaling pathway |
| HP:0005295 | Pseudocoarctation of the aorta |
| HP:0012303 | Abnormal aortic arch morphology |
| HP:0001679 | Abnormal aortic morphology |
| http://purl.obolibrary.org/obo/GO_0019226 | transmission of nerve impulse |
| http://purl.obolibrary.org/obo/GO_0035637 | multicellular organismal signaling |
| HP:0030286 | Atrophic superior cerebellar peduncle |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| http://purl.obolibrary.org/obo/UBERON_0003826 | upper leg bone |
| http://purl.obolibrary.org/obo/UBERON_0003829 | urethra muscle tissue |
| HP:0030282 | Posterior rib gap |
| HP:0030283 | Partial absence of the septum pellucidum |
| HP:0007375 | Abnormality of the septum pellucidum |
| http://purl.obolibrary.org/obo/GO_0007272 | ensheathment of neurons |
| HP:0030284 | Triangular tongue |
| HP:0000158 | Macroglossia |
| HP:0030285 | Splayed superior cerebellar peduncle |
| HP:0011932 | Abnormality of the superior cerebellar peduncle |
| HP:0011931 | Abnormality of the cerebellar peduncle |
| HP:0012501 | Abnormality of the brainstem white matter |
| HP:0002438 | Cerebellar malformation |
| http://purl.obolibrary.org/obo/GO_0007274 | neuromuscular synaptic transmission |
| http://purl.obolibrary.org/obo/GO_0007276 | gamete generation |
| HP:0030280 | Rib gap |
| http://purl.obolibrary.org/obo/UBERON_0003820 | prostate bud |
| http://purl.obolibrary.org/obo/UBERON_0004902 | urogenital sinus epithelium |
| http://purl.obolibrary.org/obo/UBERON_0009846 | embryonic cloacal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0009521 | anal membrane endodermal component |
| http://purl.obolibrary.org/obo/UBERON_0012481 | cloacal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005153 | epithelial bud |
| http://purl.obolibrary.org/obo/UBERON_0005157 | epithelial fold |
| HP:0030281 | Cervical C3/C4 vertebral fusion |
| HP:0002949 | Fused cervical vertebrae |
| http://purl.obolibrary.org/obo/PR_P31994 | low affinity immunoglobulin gamma Fc region receptor II-b (human) |
| http://purl.obolibrary.org/obo/PR_000001481 | low affinity immunoglobulin gamma Fc region receptor II-b |
| http://purl.obolibrary.org/obo/PR_000001355 | immunoglobulin gamma Fc receptor II/III/IV |
| http://purl.obolibrary.org/obo/UBERON_0003822 | forelimb stylopod |
| http://purl.obolibrary.org/obo/UBERON_0008785 | upper limb segment |
| http://purl.obolibrary.org/obo/UBERON_0002472 | stylopod |
| http://purl.obolibrary.org/obo/UBERON_0003823 | hindlimb zeugopod |
| http://purl.obolibrary.org/obo/UBERON_0008784 | lower limb segment |
| http://purl.obolibrary.org/obo/UBERON_0002471 | zeugopod |
| http://purl.obolibrary.org/obo/UBERON_0002529 | limb segment |
| http://purl.obolibrary.org/obo/UBERON_0010538 | paired limb/fin segment |
| http://purl.obolibrary.org/obo/UBERON_0010758 | subdivision of organism along appendicular axis |
| http://purl.obolibrary.org/obo/UBERON_0015808 | eye epithelium |
| http://purl.obolibrary.org/obo/UBERON_0007625 | pigment epithelium of eye |
| http://purl.obolibrary.org/obo/PR_P16331 | phenylalanine-4-hydroxylase (mouse) |
| http://purl.obolibrary.org/obo/PR_000012234 | phenylalanine-4-hydroxylase |
| HP:0030275 | Ectopic scrotum |
| http://purl.obolibrary.org/obo/CHEBI_26836 | sulfuric acid |
| HP:0030276 | Small scrotum |
| HP:0030271 | Reduced erythrocyte 2,3-diphosphoglycerate concentration |
| HP:0030273 | Reduced red cell adenosine deaminase level |
| HP:0030274 | Accessory scrotum |
| http://purl.obolibrary.org/obo/GO_0007268 | chemical synaptic transmission |
| http://purl.obolibrary.org/obo/GO_0098916 | anterograde trans-synaptic signaling |
| http://purl.obolibrary.org/obo/GO_0099537 | trans-synaptic signaling |
| http://purl.obolibrary.org/obo/GO_0099536 | synaptic signaling |
| http://purl.obolibrary.org/obo/GO_0007267 | cell-cell signaling |
| http://purl.obolibrary.org/obo/GO_0023052 | signaling |
| http://purl.obolibrary.org/obo/UBERON_0003832 | esophagus muscle |
| HP:0030270 | Elevated red cell adenosine deaminase level |
| HP:0030272 | Abnormal erythrocyte enzyme level |
| http://purl.obolibrary.org/obo/UBERON_0003833 | abdominal segment muscle |
| http://purl.obolibrary.org/obo/CHEBI_26833 | sulfur atom |
| http://purl.obolibrary.org/obo/CHEBI_33303 | chalcogen |
| http://purl.obolibrary.org/obo/UBERON_0003836 | abdominal segment skin |
| HP:0030279 | Hypoplastic L5 vertebral pedicle |
| HP:0030278 | Hypoplastic vertebral pedicle |
| HP:0030277 | Abnormal vertebral pedicle morphology |
| http://purl.obolibrary.org/obo/UBERON_0015813 | middle ear epithelium |
| http://purl.obolibrary.org/obo/GO_0019249 | lactate biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0006089 | lactate metabolic process |
| http://purl.obolibrary.org/obo/GO_1901617 | organic hydroxy compound biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1901615 | organic hydroxy compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0072330 | monocarboxylic acid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0046394 | carboxylic acid biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0016053 | organic acid biosynthetic process |
| http://purl.obolibrary.org/obo/UBERON_0015814 | outer ear epithelium |
| http://purl.obolibrary.org/obo/GO_0046852 | positive regulation of bone remodeling |
| http://purl.obolibrary.org/obo/GO_0034105 | positive regulation of tissue remodeling |
| http://purl.obolibrary.org/obo/GO_0046851 | negative regulation of bone remodeling |
| http://purl.obolibrary.org/obo/GO_0034104 | negative regulation of tissue remodeling |
| http://purl.obolibrary.org/obo/GO_0046850 | regulation of bone remodeling |
| http://purl.obolibrary.org/obo/GO_0034103 | regulation of tissue remodeling |
| http://purl.obolibrary.org/obo/GO_0046849 | bone remodeling |
| http://purl.obolibrary.org/obo/GO_0048771 | tissue remodeling |
| http://purl.obolibrary.org/obo/GO_0140053 | mitochondrial gene expression |
| http://purl.obolibrary.org/obo/PR_Q02650 | paired box protein Pax-5 (mouse) |
| HP:0410395 | Increased proportion of effector memory CD8-positive, alpha-beta T cells |
| http://purl.obolibrary.org/obo/UBERON_5103631 | pedal digit 1 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5106048 | digit 1 digitopodial skeleton |
| HP:0410394 | Increased proportion of effector memory CD4-positive, alpha-beta T cells |
| http://purl.obolibrary.org/obo/UBERON_5103632 | pedal digit 2 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5103633 | pedal digit 3 digitopodial skeleton |
| HP:0410397 | Bronchiolectasis |
| HP:0410396 | Increased proportion of central memory CD8-positive, alpha-beta T cells |
| http://purl.obolibrary.org/obo/UBERON_5103634 | pedal digit 4 digitopodial skeleton |
| HP:0410390 | Decreased proportion of effector memory CD8-positive, alpha-beta T cells |
| HP:0410393 | Increased proportion of central memory CD4-positive, alpha-beta T cells |
| HP:0410391 | Increased proportion of CD4-positive, alpha-beta memory T cells |
| HP:0410392 | Increased proportion of CD8-positive, alpha-beta memory T cells |
| HP:0032184 | Increased proportion of memory T cells |
| HP:0410399 | Positive blood lead test |
| http://purl.obolibrary.org/obo/UBERON_5103635 | pedal digit 5 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5101466 | pedal digit digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5103622 | manual digit 2 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5106049 | digit 2 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5103623 | manual digit 3 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5106050 | digit 3 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5103624 | manual digit 4 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5106051 | digit 4 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5103625 | manual digit 5 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5106052 | digit 5 digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5102389 | manual digit digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_5102544 | individual digit of digitopodial skeleton |
| http://purl.obolibrary.org/obo/UBERON_0010712 | limb skeleton subdivision |
| http://purl.obolibrary.org/obo/GO_0010822 | positive regulation of mitochondrion organization |
| http://purl.obolibrary.org/obo/GO_0010638 | positive regulation of organelle organization |
| http://purl.obolibrary.org/obo/GO_0051130 | positive regulation of cellular component organization |
| http://purl.obolibrary.org/obo/GO_0010829 | negative regulation of glucose transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0010828 | positive regulation of glucose transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0010827 | regulation of glucose transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0010823 | negative regulation of mitochondrion organization |
| http://purl.obolibrary.org/obo/GO_0010639 | negative regulation of organelle organization |
| http://purl.obolibrary.org/obo/GO_0051129 | negative regulation of cellular component organization |
| http://purl.obolibrary.org/obo/GO_0010821 | regulation of mitochondrion organization |
| http://purl.obolibrary.org/obo/GO_0033043 | regulation of organelle organization |
| http://purl.obolibrary.org/obo/GO_0051128 | regulation of cellular component organization |
| http://purl.obolibrary.org/obo/CHEBI_36141 | quinone |
| http://purl.obolibrary.org/obo/CHEBI_24163 | galactoside |
| http://purl.obolibrary.org/obo/CHEBI_35313 | hexoside |
| HP:0005404 | Increased B cell count |
| HP:0100827 | Lymphocytosis |
| HP:0001974 | Leukocytosis |
| http://purl.obolibrary.org/obo/CHEBI_36147 | oxo dicarboxylate |
| HP:0005406 | Recurrent bacterial skin infections |
| http://purl.obolibrary.org/obo/CHEBI_36149 | 2-hydroxyglutarate(1-) |
| http://purl.obolibrary.org/obo/CHEBI_35695 | dicarboxylic acid monoanion |
| HP:0005407 | Decreased proportion of CD4-positive helper T cells |
| HP:0500267 | Abnormal proportion of CD4-positive helper T cells |
| http://purl.obolibrary.org/obo/GO_0071754 | IgM immunoglobulin complex, circulating |
| http://purl.obolibrary.org/obo/GO_0071753 | IgM immunoglobulin complex |
| HP:0005401 | Recurrent candida infections |
| http://purl.obolibrary.org/obo/CHEBI_36145 | oxo dicarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_25754 | oxo carboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_38793 | pteroate |
| HP:0005419 | Decreased T cell activation |
| HP:0005416 | Decreased serum complement factor B |
| http://purl.obolibrary.org/obo/CHEBI_38796 | pteroates |
| http://purl.obolibrary.org/obo/CHEBI_22494 | aminobenzoate |
| http://purl.obolibrary.org/obo/CHEBI_22718 | benzoates |
| http://purl.obolibrary.org/obo/CHEBI_38794 | pteroic acid |
| http://purl.obolibrary.org/obo/CHEBI_38795 | pteroic acids |
| HP:0005411 | Chronic intestinal candidiasis |
| HP:0002728 | Chronic mucocutaneous candidiasis |
| HP:0011370 | Recurrent cutaneous fungal infections |
| HP:0002841 | Recurrent fungal infections |
| HP:0020100 | Unusual fungal infection |
| HP:0001581 | Recurrent skin infections |
| HP:0005413 | Increased alpha-globulin |
| HP:0032311 | Increased circulating globulin level |
| http://purl.obolibrary.org/obo/GO_0071739 | IgD immunoglobulin complex, circulating |
| http://purl.obolibrary.org/obo/GO_0071738 | IgD immunoglobulin complex |
| http://purl.obolibrary.org/obo/CHEBI_36164 | amino dicarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_35692 | dicarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_131927 | dicarboxylic acids and O-substituted derivatives |
| HP:0005421 | Decreased serum complement C3 |
| HP:0004431 | Complement deficiency |
| HP:0005428 | Severe recurrent varicella |
| HP:0005429 | Recurrent systemic pyogenic infections |
| HP:0005422 | Absence of CD8-positive T cells |
| HP:0005415 | Decreased proportion of CD8-positive T cells |
| HP:0005403 | Decrease in T cell count |
| HP:0001888 | Lymphopenia |
| HP:0031393 | Abnormal proportion of CD8-positive T cells |
| HP:0005423 | Dysfunctional alternative complement pathway |
| HP:0005424 | Absent specific antibody response |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0002205 | Recurrent respiratory infections |
| HP:0011947 | Respiratory tract infection |
| http://purl.obolibrary.org/obo/GO_0071736 | IgG immunoglobulin complex, circulating |
| http://purl.obolibrary.org/obo/GO_0071735 | IgG immunoglobulin complex |
| HP:0005430 | Recurrent Neisserial infections |
| HP:0005420 | Recurrent gram-negative bacterial infections |
| HP:0002718 | Recurrent bacterial infections |
| HP:0005432 | Transient hypogammaglobulinemia of infancy |
| HP:0005437 | Recurrent infections in infancy and early childhood |
| http://purl.obolibrary.org/obo/CHEBI_61115 | EC 3.5.1.98 (histone deacetylase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76807 | EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76764 | EC 3.5.* (hydrolases acting on non-peptide C-N bonds) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76759 | EC 3.* (hydrolase) inhibitor |
| HP:0005439 | Maxillozygomatic hypoplasia |
| HP:0010669 | Hypoplasia of the zygomatic bone |
| http://purl.obolibrary.org/obo/GO_0071743 | IgE immunoglobulin complex, circulating |
| http://purl.obolibrary.org/obo/GO_0071742 | IgE immunoglobulin complex |
| http://purl.obolibrary.org/obo/GO_0071746 | IgA immunoglobulin complex, circulating |
| http://purl.obolibrary.org/obo/GO_0042571 | immunoglobulin complex, circulating |
| http://purl.obolibrary.org/obo/GO_0071745 | IgA immunoglobulin complex |
| HP:0005435 | Impaired T cell function |
| http://purl.obolibrary.org/obo/UBERON_0013162 | right lateral ventricle |
| http://purl.obolibrary.org/obo/UBERON_0013160 | epithalamus ventricular layer |
| http://purl.obolibrary.org/obo/UBERON_0004060 | neural tube ventricular layer |
| http://purl.obolibrary.org/obo/UBERON_0034706 | proliferating neuroepithelium |
| http://purl.obolibrary.org/obo/UBERON_0013161 | left lateral ventricle |
| http://purl.obolibrary.org/obo/UBERON_0002285 | telencephalic ventricle |
| http://purl.obolibrary.org/obo/UBERON_0004086 | brain ventricle |
| http://purl.obolibrary.org/obo/UBERON_0005358 | ventricle of nervous system |
| http://purl.obolibrary.org/obo/UBERON_0003947 | brain ventricle/choroid plexus |
| http://purl.obolibrary.org/obo/UBERON_0013167 | cricopharyngeal ligament |
| http://purl.obolibrary.org/obo/UBERON_0001189 | left testicular artery |
| http://purl.obolibrary.org/obo/UBERON_0001182 | superior mesenteric artery |
| http://purl.obolibrary.org/obo/CHEBI_48154 | sulfur oxide |
| http://purl.obolibrary.org/obo/UBERON_0001183 | inferior mesenteric artery |
| http://purl.obolibrary.org/obo/UBERON_0035039 | rectal artery |
| http://purl.obolibrary.org/obo/UBERON_0005616 | mesenteric artery |
| http://purl.obolibrary.org/obo/UBERON_0001186 | left renal artery |
| http://purl.obolibrary.org/obo/UBERON_0001185 | right renal artery |
| http://purl.obolibrary.org/obo/UBERON_0001184 | renal artery |
| http://purl.obolibrary.org/obo/UBERON_0001188 | right testicular artery |
| http://purl.obolibrary.org/obo/UBERON_0001187 | testicular artery |
| http://purl.obolibrary.org/obo/UBERON_0010192 | genital artery |
| http://purl.obolibrary.org/obo/UBERON_0013168 | thyroepiglottic ligament |
| http://purl.obolibrary.org/obo/UBERON_0006325 | laryngeal intrinsic ligament |
| http://purl.obolibrary.org/obo/UBERON_0013171 | cricothyroid ligament |
| http://purl.obolibrary.org/obo/UBERON_0013172 | cricotracheal ligament |
| http://purl.obolibrary.org/obo/GO_0044110 | growth involved in symbiotic interaction |
| http://purl.obolibrary.org/obo/GO_0044111 | development involved in symbiotic interaction |
| http://purl.obolibrary.org/obo/UBERON_0013170 | cricoarytenoid ligament |
| http://purl.obolibrary.org/obo/UBERON_0001730 | extrinsic ligament of larynx |
| http://purl.obolibrary.org/obo/UBERON_0001743 | ligament of larynx |
| http://purl.obolibrary.org/obo/UBERON_0001194 | splenic artery |
| http://purl.obolibrary.org/obo/UBERON_0001199 | mucosa of stomach |
| http://purl.obolibrary.org/obo/CHEBI_63794 | retinoid X receptor agonist |
| http://purl.obolibrary.org/obo/UBERON_0001191 | common iliac artery |
| http://purl.obolibrary.org/obo/UBERON_0012254 | abdominal aorta artery |
| http://purl.obolibrary.org/obo/UBERON_0005609 | iliac artery |
| http://purl.obolibrary.org/obo/GO_0044106 | cellular amine metabolic process |
| http://purl.obolibrary.org/obo/GO_0009308 | amine metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0001190 | ovarian artery |
| http://purl.obolibrary.org/obo/UBERON_0013191 | ovarian cortex |
| http://purl.obolibrary.org/obo/UBERON_0001851 | cortex |
| http://purl.obolibrary.org/obo/UBERON_0013192 | ovarian medulla |
| http://purl.obolibrary.org/obo/UBERON_0000958 | medulla of organ |
| http://purl.obolibrary.org/obo/UBERON_0000471 | compound organ component |
| http://purl.obolibrary.org/obo/GO_0032109 | positive regulation of response to nutrient levels |
| http://purl.obolibrary.org/obo/GO_0032108 | negative regulation of response to nutrient levels |
| HP:0030420 | Vulvar adenocarcinoma |
| HP:0030421 | Epididymal neoplasm |
| http://purl.obolibrary.org/obo/UBERON_0015783 | smooth muscle layer in fatty layer of subcutaneous tissue |
| http://purl.obolibrary.org/obo/UBERON_0013122 | distal epiphysis of phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0004448 | distal epiphysis of phalanx |
| http://purl.obolibrary.org/obo/UBERON_0004379 | distal epiphysis |
| http://purl.obolibrary.org/obo/UBERON_0013121 | proximal epiphysis of phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0011973 | epiphysis of phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0004447 | proximal epiphysis of phalanx |
| http://purl.obolibrary.org/obo/UBERON_0004446 | epiphysis of phalanx |
| http://purl.obolibrary.org/obo/UBERON_0004380 | proximal epiphysis |
| http://purl.obolibrary.org/obo/UBERON_0001437 | epiphysis |
| http://purl.obolibrary.org/obo/UBERON_0001146 | suprarenal vein |
| http://purl.obolibrary.org/obo/GO_0034763 | negative regulation of transmembrane transport |
| http://purl.obolibrary.org/obo/UBERON_0001145 | ovarian vein |
| http://purl.obolibrary.org/obo/UBERON_0001148 | median nerve |
| http://purl.obolibrary.org/obo/GO_0034764 | positive regulation of transmembrane transport |
| http://purl.obolibrary.org/obo/GO_0034762 | regulation of transmembrane transport |
| HP:0005490 | Postnatal macrocephaly |
| HP:0000256 | Macrocephaly |
| http://purl.obolibrary.org/obo/GO_0032105 | negative regulation of response to extracellular stimulus |
| http://purl.obolibrary.org/obo/GO_0032107 | regulation of response to nutrient levels |
| http://purl.obolibrary.org/obo/GO_0032106 | positive regulation of response to extracellular stimulus |
| http://purl.obolibrary.org/obo/GO_0032103 | positive regulation of response to external stimulus |
| http://purl.obolibrary.org/obo/GO_0032104 | regulation of response to extracellular stimulus |
| HP:0005484 | Postnatal microcephaly |
| HP:0000252 | Microcephaly |
| HP:0007364 | Aplasia/Hypoplasia of the cerebrum |
| HP:0005486 | Small fontanelle |
| HP:0005487 | Prominent metopic ridge |
| http://purl.obolibrary.org/obo/UBERON_0001142 | left renal vein |
| http://purl.obolibrary.org/obo/UBERON_0001141 | right renal vein |
| http://purl.obolibrary.org/obo/UBERON_0001140 | renal vein |
| HP:0005482 | Abnormality of the alternative complement pathway |
| HP:0005339 | Abnormality of complement system |
| http://purl.obolibrary.org/obo/UBERON_0001144 | testicular vein |
| HP:0005483 | Abnormal epiglottis morphology |
| HP:3000053 | Abnormality of hypopharynx |
| http://purl.obolibrary.org/obo/UBERON_0001143 | hepatic vein |
| http://purl.obolibrary.org/obo/UBERON_0013126 | vein of abdomen |
| HP:0030427 | Ossifying fibroma of the jaw |
| HP:0030426 | Ossifying fibroma |
| HP:0010614 | Fibroma |
| HP:0012316 | Fibrous tissue neoplasm |
| HP:0012290 | Mouth neoplasm |
| HP:0030428 | Cutaneous myxoma |
| http://purl.obolibrary.org/obo/UBERON_0013124 | left posterior cardinal vein |
| http://purl.obolibrary.org/obo/UBERON_0002065 | posterior cardinal vein |
| http://purl.obolibrary.org/obo/UBERON_0004344 | cardinal vein |
| http://purl.obolibrary.org/obo/UBERON_0015789 | cranial or facial muscle |
| http://purl.obolibrary.org/obo/UBERON_0015788 | olfactory apparatus chamber |
| http://purl.obolibrary.org/obo/UBERON_0015787 | upper respiratory conduit |
| HP:0030429 | Juvenile nasopharyngeal angiofibroma |
| HP:0030423 | Splenic cyst |
| HP:0025408 | Abnormal spleen morphology |
| HP:0001743 | Abnormality of the spleen |
| HP:0030424 | Epididymal cyst |
| HP:0009714 | Abnormality of the epididymis |
| HP:0030425 | Calcified ovarian cyst |
| HP:0000138 | Ovarian cyst |
| HP:0031065 | Abnormal ovarian morphology |
| HP:0030410 | Sebaceous gland carcinoma |
| http://purl.obolibrary.org/obo/GO_0007166 | cell surface receptor signaling pathway |
| http://purl.obolibrary.org/obo/UBERON_0001159 | sigmoid colon |
| http://purl.obolibrary.org/obo/UBERON_0001158 | descending colon |
| http://purl.obolibrary.org/obo/UBERON_0000168 | proximal-distal subdivision of colon |
| http://purl.obolibrary.org/obo/CHEBI_75787 | prokaryotic metabolite |
| HP:0005495 | Metopic suture patent to nasal root |
| http://purl.obolibrary.org/obo/CHEBI_38717 | carboxylic acid trianion |
| HP:0005498 | Midline skin dimples over anterior/posterior fontanelles |
| HP:0000236 | Abnormality of the anterior fontanelle |
| HP:0030419 | Bartholin gland carcinoma |
| http://purl.obolibrary.org/obo/UBERON_0001152 | cystic duct |
| http://purl.obolibrary.org/obo/UBERON_0001155 | colon |
| HP:0005494 | Premature posterior fontanelle closure |
| HP:0030415 | Sarcomatoid carcinoma of the tongue |
| http://purl.obolibrary.org/obo/UBERON_0013135 | interdental plate |
| HP:0030417 | Squamous cell carcinoma of the vulva |
| HP:0030418 | Vulvar melanoma |
| HP:0030416 | Vulvar neoplasm |
| HP:0030411 | Jejunal adenocarcinoma |
| HP:0030412 | Ileal adenocarcinoma |
| http://purl.obolibrary.org/obo/UBERON_0013139 | ligament of liver |
| http://purl.obolibrary.org/obo/UBERON_0008845 | nonskeletal ligament |
| HP:0030414 | Verrucous cell carcinoma of the tongue |
| HP:0030413 | Squamous cell carcinoma of the tongue |
| http://purl.obolibrary.org/obo/CHEBI_75771 | mouse metabolite |
| http://purl.obolibrary.org/obo/CHEBI_75772 | Saccharomyces cerevisiae metabolite |
| http://purl.obolibrary.org/obo/CHEBI_76946 | fungal metabolite |
| http://purl.obolibrary.org/obo/UBERON_0013142 | soleal vein |
| http://purl.obolibrary.org/obo/UBERON_0013143 | gastrocnemius vein |
| http://purl.obolibrary.org/obo/UBERON_0001551 | vein of hindlimb zeugopod |
| http://purl.obolibrary.org/obo/UBERON_0004261 | lower leg blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0001168 | wall of small intestine |
| http://purl.obolibrary.org/obo/UBERON_0001167 | wall of stomach |
| http://purl.obolibrary.org/obo/UBERON_0001169 | wall of large intestine |
| http://purl.obolibrary.org/obo/UBERON_0001262 | wall of intestine |
| http://purl.obolibrary.org/obo/GO_0019172 | glyoxalase III activity |
| http://purl.obolibrary.org/obo/GO_0016836 | SDS dimers:PXLP dehydrate L-Thr to 2AA |
| http://purl.obolibrary.org/obo/GO_0016835 | carbon-oxygen lyase activity |
| http://purl.obolibrary.org/obo/GO_0016829 | PHYKPL tetramer hydrolyses 5PHL |
| http://purl.obolibrary.org/obo/UBERON_0001161 | body of stomach |
| HP:0030408 | Pineoblastoma |
| HP:0030409 | Renal transitional cell carcinoma |
| http://purl.obolibrary.org/obo/UBERON_0001166 | pylorus |
| http://purl.obolibrary.org/obo/UBERON_0001165 | pyloric antrum |
| http://purl.obolibrary.org/obo/UBERON_0009870 | zone of stomach |
| http://purl.obolibrary.org/obo/UBERON_0013148 | early midbrain vesicle |
| HP:0030404 | Glucagonoma |
| http://purl.obolibrary.org/obo/UBERON_0013149 | hindbrain vesicle |
| HP:0030405 | Pancreatic endocrine tumor |
| HP:0030406 | Primary peritoneal carcinoma |
| http://purl.obolibrary.org/obo/UBERON_0013147 | early mesencephalic vesicle |
| HP:0030407 | Pineocytoma |
| HP:0030400 | Abnormal platelet lysosome secretion |
| HP:0030401 | Abnormal platelet dense granule ATP/ADP ratio |
| HP:0012484 | Abnormal dense granules |
| HP:0011883 | Abnormal platelet granules |
| HP:0030403 | Spontaneous platelet aggregation |
| http://purl.obolibrary.org/obo/UBERON_0013151 | choroidal artery |
| http://purl.obolibrary.org/obo/UBERON_0013150 | future brain vesicle |
| http://purl.obolibrary.org/obo/UBERON_0010064 | open anatomical space |
| http://purl.obolibrary.org/obo/UBERON_0013156 | 1st arch mandibular endoderm |
| http://purl.obolibrary.org/obo/GO_0007186 | G protein-coupled receptor signaling pathway |
| http://purl.obolibrary.org/obo/GO_0007165 | signal transduction |
| http://purl.obolibrary.org/obo/UBERON_0001179 | peritoneal cavity |
| http://purl.obolibrary.org/obo/UBERON_0001178 | visceral peritoneum |
| http://purl.obolibrary.org/obo/UBERON_0022350 | visceral serous membrane |
| http://purl.obolibrary.org/obo/CHEBI_75768 | mammalian metabolite |
| http://purl.obolibrary.org/obo/CHEBI_75769 | B vitamin |
| http://purl.obolibrary.org/obo/CHEBI_50733 | nutraceutical |
| http://purl.obolibrary.org/obo/CHEBI_27314 | water-soluble vitamin |
| http://purl.obolibrary.org/obo/CHEBI_33229 | vitamin |
| http://purl.obolibrary.org/obo/CHEBI_27027 | micronutrient |
| http://purl.obolibrary.org/obo/CHEBI_33284 | nutrient |
| http://purl.obolibrary.org/obo/CHEBI_78295 | food component |
| http://purl.obolibrary.org/obo/CHEBI_52211 | physiological role |
| http://purl.obolibrary.org/obo/UBERON_0001171 | portal lobule |
| http://purl.obolibrary.org/obo/UBERON_0009911 | lobule |
| http://purl.obolibrary.org/obo/UBERON_0001173 | biliary tree |
| http://purl.obolibrary.org/obo/UBERON_0001172 | hepatic acinus |
| http://purl.obolibrary.org/obo/UBERON_0011858 | acinus of exocrine gland |
| http://purl.obolibrary.org/obo/UBERON_0009842 | glandular acinus |
| http://purl.obolibrary.org/obo/UBERON_0001175 | common hepatic duct |
| http://purl.obolibrary.org/obo/UBERON_0001174 | common bile duct |
| http://purl.obolibrary.org/obo/UBERON_0001177 | left hepatic duct |
| http://purl.obolibrary.org/obo/CHEBI_12109 | 5-aminolevulinate |
| http://purl.obolibrary.org/obo/UBERON_0001176 | right hepatic duct |
| http://purl.obolibrary.org/obo/UBERON_0013159 | epithalamus mantle layer |
| http://purl.obolibrary.org/obo/UBERON_0004061 | neural tube mantle layer |
| http://purl.obolibrary.org/obo/UBERON_0034707 | differentiating neuroepithelium |
| http://purl.obolibrary.org/obo/UBERON_0013158 | foregut-midgut junction gland |
| HP:0030462 | Abnormal amplitude of flash visual evoked potentials |
| HP:0030463 | Asymmetrical distribution of flash visual evoked potentials |
| HP:0030464 | Asymmetrical distribution of pattern reversal visual evoked potentials |
| HP:0030465 | Undetectable light-adapted electroretinogram |
| HP:0030460 | Abnormal timing of pattern reversal visual evoked potentials |
| HP:0100289 | Abnormality of pattern reversal visual evoked potentials |
| HP:0030461 | Abnormal timing of flash visual evoked potentials |
| HP:0007928 | Abnormal flash visual evoked potentials |
| http://purl.obolibrary.org/obo/UBERON_0001103 | diaphragm |
| http://purl.obolibrary.org/obo/UBERON_0003831 | respiratory system muscle |
| http://purl.obolibrary.org/obo/UBERON_0001105 | clavicle bone |
| http://purl.obolibrary.org/obo/UBERON_0007829 | pectoral girdle bone |
| http://purl.obolibrary.org/obo/UBERON_0007828 | girdle bone/zone |
| http://purl.obolibrary.org/obo/CHEBI_51721 | alpha,beta-unsaturated ketone |
| HP:0005441 | Sclerotic cranial sutures |
| HP:0005442 | Widely patent coronal suture |
| http://purl.obolibrary.org/obo/UBERON_0001100 | pectoralis minor |
| http://purl.obolibrary.org/obo/UBERON_0001495 | pectoral muscle |
| http://purl.obolibrary.org/obo/UBERON_0003830 | thoracic segment muscle |
| http://purl.obolibrary.org/obo/UBERON_0001774 | skeletal muscle of trunk |
| http://purl.obolibrary.org/obo/UBERON_0008196 | muscle of pectoral girdle |
| http://purl.obolibrary.org/obo/CHEBI_51718 | alpha,beta-unsaturated aldehyde |
| http://purl.obolibrary.org/obo/CHEBI_17478 | aldehyde |
| HP:0005449 | Bridged sella turcica |
| HP:0005445 | Widened posterior fossa |
| HP:0005446 | Obtuse angle of mandible |
| HP:0030452 | Chylolymphatic mesenteric cyst |
| HP:0030451 | Mesenteric cyst |
| HP:0100016 | Abnormality of mesentery morphology |
| HP:0030454 | Abnormal electrooculogram |
| http://purl.obolibrary.org/obo/UBERON_0015751 | inferior tarsal muscle |
| http://purl.obolibrary.org/obo/UBERON_0001112 | latissimus dorsi muscle |
| http://purl.obolibrary.org/obo/UBERON_0001115 | left lobe of liver |
| http://purl.obolibrary.org/obo/UBERON_0001114 | right lobe of liver |
| http://purl.obolibrary.org/obo/UBERON_0001113 | lobe of liver |
| http://purl.obolibrary.org/obo/UBERON_0001119 | right lobe of thyroid gland |
| HP:0005451 | Decreased cranial base ossification |
| http://purl.obolibrary.org/obo/UBERON_0001111 | intercostal muscle |
| HP:0005450 | Calvarial osteosclerosis |
| HP:0005456 | Absent ethmoidal sinuses |
| HP:0002689 | Absent paranasal sinuses |
| HP:0005453 | Absent/hypoplastic paranasal sinuses |
| HP:0009120 | Aplasia/Hypoplasia involving the sinuses |
| HP:3000040 | Abnormality of ethmoid sinus |
| HP:0030457 | Abnormal amplitude of pattern onset/offset visual evoked potentials |
| HP:0005458 | Premature closure of fontanelles |
| HP:0011328 | Abnormality of fontanelles |
| HP:0030458 | Abnormal timing of pattern onset/offset visual evoked potentials |
| HP:0030456 | Abnormality of pattern onset/offset visual evoked potentials |
| HP:0030455 | Abnormality of pattern visual evoked potentials |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0030441 | Anal margin Paget's disease |
| HP:0030442 | Anal margin squamous cell carcinoma |
| HP:0030443 | Anal margin basal cell carcinoma |
| http://purl.obolibrary.org/obo/UBERON_0001125 | serratus ventralis |
| http://purl.obolibrary.org/obo/UBERON_0034908 | scapular muscle |
| http://purl.obolibrary.org/obo/UBERON_0001482 | muscle of shoulder |
| http://purl.obolibrary.org/obo/CHEBI_24149 | galactonic acid |
| http://purl.obolibrary.org/obo/CHEBI_33752 | hexonic acid |
| http://purl.obolibrary.org/obo/CHEBI_22301 | aldonic acid |
| http://purl.obolibrary.org/obo/CHEBI_33720 | carbohydrate acid |
| http://purl.obolibrary.org/obo/CHEBI_24148 | galactonate |
| http://purl.obolibrary.org/obo/CHEBI_33778 | galactonates |
| http://purl.obolibrary.org/obo/CHEBI_33760 | hexonate |
| HP:0005462 | Calcification of falx cerebri |
| HP:0010653 | Abnormality of the falx cerebri |
| HP:0010652 | Abnormal dura mater morphology |
| HP:0005463 | Elongated sella turcica |
| HP:0005465 | Facial hyperostosis |
| HP:0004493 | Craniofacial hyperostosis |
| http://purl.obolibrary.org/obo/PR_Q61147 | ceruloplasmin (mouse) |
| http://purl.obolibrary.org/obo/PR_000005794 | ceruloplasmin |
| http://purl.obolibrary.org/obo/UBERON_0001120 | left lobe of thyroid gland |
| http://purl.obolibrary.org/obo/UBERON_0001118 | lobe of thyroid gland |
| http://purl.obolibrary.org/obo/UBERON_0035075 | thymus subunit |
| http://purl.obolibrary.org/obo/UBERON_0009912 | anatomical lobe |
| HP:0005461 | Craniofacial disproportion |
| HP:0001999 | Abnormal facial shape |
| HP:0030448 | Soft tissue sarcoma |
| HP:0100242 | Sarcoma |
| HP:0030449 | Therapeutic abortion |
| http://purl.obolibrary.org/obo/UBERON_0015766 | epithelium of duct of salivary gland |
| http://purl.obolibrary.org/obo/UBERON_0034969 | epithelial layer of duct |
| HP:0005466 | Hypoplasia of the frontal bone |
| HP:0011218 | Abnormal shape of the frontal region |
| HP:0430000 | Abnormality of the frontal bone |
| HP:0030444 | Anal margin melanoma |
| HP:0030440 | Anal margin neoplasm |
| HP:0030446 | Atypical pulmonary carcinoid tumor |
| HP:0030445 | Pulmonary carcinoid tumor |
| HP:0100570 | Carcinoid tumor |
| HP:0005469 | Flat occiput |
| HP:0011217 | Abnormal shape of the occiput |
| HP:0012294 | Abnormality of the occipital bone |
| HP:0030447 | Merkel cell skin cancer |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=437 | ALPI (human) |
| HP:0030430 | Neuroma |
| HP:0030431 | Osteochondroma |
| http://purl.obolibrary.org/obo/CHEBI_63726 | neuroprotective agent |
| http://purl.obolibrary.org/obo/CHEBI_50267 | protective agent |
| HP:0030432 | Chondroblastoma |
| http://purl.obolibrary.org/obo/UBERON_0001137 | dorsum |
| http://purl.obolibrary.org/obo/UBERON_0001138 | superior mesenteric vein |
| http://purl.obolibrary.org/obo/UBERON_0005617 | mesenteric vein |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=439 | ALPP (human) |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=438 | ALPL (human) |
| HP:0005473 | Fusion of middle ear ossicles |
| HP:0004452 | Abnormality of the middle ear ossicles |
| HP:0008609 | Morphological abnormality of the middle ear |
| HP:0005476 | Widely patent sagittal suture |
| http://purl.obolibrary.org/obo/UBERON_0001131 | vertebral foramen |
| http://purl.obolibrary.org/obo/UBERON_0001130 | vertebral column |
| HP:0005472 | Orbital craniosynostosis |
| HP:3000030 | Abnormality of bony orbit of skull |
| HP:0001363 | Craniosynostosis |
| http://purl.obolibrary.org/obo/UBERON_0001132 | parathyroid gland |
| http://purl.obolibrary.org/obo/UBERON_0002368 | endocrine gland |
| HP:0030438 | Anal canal squamous cell carcinoma |
| HP:0030439 | Anal canal adenocarcinoma |
| HP:0030437 | Anal canal neoplasm |
| HP:0004378 | Abnormality of the anus |
| HP:0012732 | Anorectal anomaly |
| HP:0005477 | Progressive sclerosis of skull base |
| HP:0002694 | Sclerosis of skull base |
| HP:0030433 | Osteoid osteoma |
| HP:0100246 | Osteoma |
| HP:0005478 | Prominent frontal sinuses |
| HP:0002687 | Abnormality of frontal sinus |
| HP:0000245 | Abnormality of the paranasal sinuses |
| HP:0030434 | Pilomatrixoma |
| HP:0012842 | Skin appendage neoplasm |
| HP:0005479 | Decreased circulating IgE |
| HP:0030436 | Fibrofolliculoma |
| http://purl.obolibrary.org/obo/UBERON_0013118 | sulcus of brain |
| http://purl.obolibrary.org/obo/UBERON_0000093 | sulcus |
| HP:0030385 | Increased proportion of marginal zone B cells |
| http://purl.obolibrary.org/obo/UBERON_0003727 | intercostal nerve |
| http://purl.obolibrary.org/obo/UBERON_0003728 | mediastinum |
| HP:0030387 | Increased proportion of class-switched memory B cells |
| HP:0030388 | Decreased proportion of class-switched memory B cells |
| HP:0030386 | Abnormal proportion of class-switched memory B cells |
| HP:0030381 | Increased proportion of transitional B cells |
| HP:0030384 | Decreased proportion of marginal zone B cells |
| HP:0030383 | Abnormal proportion of marginal zone B cells |
| http://purl.obolibrary.org/obo/PR_000002977 | killer cell lectin-like receptor subfamily B member 1C |
| http://purl.obolibrary.org/obo/PR_000001874 | KLRB1-like protein |
| http://purl.obolibrary.org/obo/UBERON_0003721 | lingual nerve |
| HP:0030380 | Decreased proportion of transitional B cells |
| http://purl.obolibrary.org/obo/UBERON_0003723 | vestibular nerve |
| http://purl.obolibrary.org/obo/UBERON_0003724 | musculocutaneous nerve |
| http://purl.obolibrary.org/obo/UBERON_0003725 | cervical nerve plexus |
| http://purl.obolibrary.org/obo/UBERON_0001813 | spinal nerve plexus |
| http://purl.obolibrary.org/obo/UBERON_0001810 | nerve plexus |
| http://purl.obolibrary.org/obo/UBERON_0003726 | thoracic nerve |
| http://purl.obolibrary.org/obo/UBERON_0001780 | spinal nerve |
| HP:0030389 | Abnormal circulating thromboxane concentration |
| HP:0030374 | Decreased proportion of memory B cells |
| HP:0030375 | Increased proportion of memory B cells |
| http://purl.obolibrary.org/obo/GO_0010720 | positive regulation of cell development |
| http://purl.obolibrary.org/obo/GO_0045597 | positive regulation of cell differentiation |
| http://purl.obolibrary.org/obo/GO_0051094 | positive regulation of developmental process |
| HP:0030377 | Increased proportion of immature B cells |
| http://purl.obolibrary.org/obo/GO_0010721 | negative regulation of cell development |
| http://purl.obolibrary.org/obo/GO_0060284 | regulation of cell development |
| http://purl.obolibrary.org/obo/GO_0045596 | negative regulation of cell differentiation |
| http://purl.obolibrary.org/obo/GO_0045595 | regulation of cell differentiation |
| http://purl.obolibrary.org/obo/GO_0051093 | negative regulation of developmental process |
| http://purl.obolibrary.org/obo/GO_0050793 | regulation of developmental process |
| HP:0030371 | Increased proportion of naive B cells |
| HP:0030372 | Decreased proportion of naive B cells |
| HP:0030370 | Abnormal proportion of naive B cells |
| HP:0030373 | Abnormal proportion of memory B cells |
| http://purl.obolibrary.org/obo/UBERON_0015717 | smooth muscle tissue layer of ejaculatory duct |
| HP:0030378 | Decreased proportion of immature B cells |
| HP:0030376 | Abnormal proportion of immature B cells |
| HP:0030379 | Abnormal proportion of transitional B cells |
| HP:0025539 | Abnormal B cell subset distribution |
| HP:0010975 | Abnormal B cell count |
| HP:0002846 | Abnormal B cell morphology |
| http://purl.obolibrary.org/obo/UBERON_0015716 | anal canal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0014703 | anal membrane ectodermal component |
| HP:0030363 | Primary Caesarian section |
| HP:0030364 | Secondary Caesarian section |
| HP:0011410 | Caesarian section |
| HP:0030365 | Vaginal birth after Caesarian |
| HP:0030366 | Delivery by Odon device |
| HP:0030360 | Large cell lung carcinoma |
| HP:0030362 | Reduced muscle carnitine level |
| http://purl.obolibrary.org/obo/GO_0007113 | endomitotic cell cycle |
| http://purl.obolibrary.org/obo/GO_0000278 | mitotic cell cycle |
| http://purl.obolibrary.org/obo/GO_0007049 | cell cycle |
| http://purl.obolibrary.org/obo/PR_P04275 | von Willebrand factor (human) |
| http://purl.obolibrary.org/obo/PR_000017364 | von Willebrand factor |
| HP:0030368 | Hyperphalangy of the 2nd finger |
| HP:0030367 | Finger hyperphalangy |
| HP:0030369 | Induced vaginal delivery |
| HP:0001787 | Abnormal delivery |
| HP:0030353 | Decreased serum insulin-like growth factor 1 |
| HP:0030352 | Abnormal serum insulin-like growth factor 1 level |
| HP:0030350 | Erythematous papule |
| HP:0200034 | Papule |
| HP:0030351 | Urticarial plaque |
| HP:0200035 | Skin plaque |
| HP:0030356 | Increased serum interferon-gamma level |
| HP:0030355 | Abnormal serum interferon-gamma level |
| HP:0030354 | Abnormal serum interferon level |
| HP:0030357 | Small cell lung carcinoma |
| http://purl.obolibrary.org/obo/CHEBI_85046 | skin lightening agent |
| http://purl.obolibrary.org/obo/CHEBI_64857 | cosmetic |
| HP:0030359 | Squamous cell lung carcinoma |
| HP:0030358 | Non-small cell lung carcinoma |
| HP:0100526 | Neoplasm of the lung |
| HP:0100606 | Neoplasm of the respiratory system |
| http://purl.obolibrary.org/obo/PR_P04216 | Thy-1 membrane glycoprotein (human) |
| http://purl.obolibrary.org/obo/PR_000001843 | Thy-1 membrane glycoprotein |
| http://purl.obolibrary.org/obo/CHEBI_26708 | sodium atom |
| http://purl.obolibrary.org/obo/CHEBI_22314 | alkali metal atom |
| http://purl.obolibrary.org/obo/CHEBI_33559 | s-block element atom |
| http://purl.obolibrary.org/obo/CHEBI_33521 | metal atom |
| http://purl.obolibrary.org/obo/GO_0009792 | embryo development ending in birth or egg hatching |
| http://purl.obolibrary.org/obo/GO_0009790 | embryo development |
| http://purl.obolibrary.org/obo/GO_0007275 | multicellular organism development |
| http://purl.obolibrary.org/obo/PR_P06879 | prolactin (mouse) |
| http://purl.obolibrary.org/obo/CHEBI_144637 | 4-hydroxy-D-proline |
| http://purl.obolibrary.org/obo/CHEBI_20392 | 4-hydroxyproline |
| http://purl.obolibrary.org/obo/CHEBI_86499 | monohydroxyproline |
| http://purl.obolibrary.org/obo/CHEBI_84185 | D-proline derivative |
| http://purl.obolibrary.org/obo/CHEBI_26273 | proline derivative |
| http://purl.obolibrary.org/obo/CHEBI_83812 | non-proteinogenic amino acid derivative |
| http://purl.obolibrary.org/obo/UBERON_0003706 | laryngeal vocal fold |
| http://purl.obolibrary.org/obo/UBERON_0034681 | vocal organ |
| http://purl.obolibrary.org/obo/UBERON_0003707 | sinus of Valsalva |
| http://purl.obolibrary.org/obo/UBERON_0003709 | circle of Willis |
| http://purl.obolibrary.org/obo/GO_0007154 | cell communication |
| http://purl.obolibrary.org/obo/UBERON_0003700 | temporomandibular joint |
| http://purl.obolibrary.org/obo/UBERON_0011171 | joint connecting upper and lower jaws |
| http://purl.obolibrary.org/obo/UBERON_0003701 | calcaneal tendon |
| http://purl.obolibrary.org/obo/UBERON_0000043 | tendon |
| http://purl.obolibrary.org/obo/UBERON_0007846 | dense regular connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0007845 | regular connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0004270 | lower leg connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0008846 | skeletal ligament |
| http://purl.obolibrary.org/obo/UBERON_0003702 | inguinal canal |
| http://purl.obolibrary.org/obo/GO_0007159 | leukocyte cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0098609 | cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0007155 | cell adhesion |
| http://purl.obolibrary.org/obo/GO_0022610 | biological adhesion |
| http://purl.obolibrary.org/obo/UBERON_0003703 | extrahepatic bile duct |
| http://purl.obolibrary.org/obo/UBERON_0003704 | intrahepatic bile duct |
| http://purl.obolibrary.org/obo/UBERON_0002394 | bile duct |
| http://purl.obolibrary.org/obo/UBERON_0003716 | recurrent laryngeal nerve |
| http://purl.obolibrary.org/obo/UBERON_0035642 | laryngeal nerve |
| http://purl.obolibrary.org/obo/PR_000002980 | lymphocyte antigen 6C2 |
| HP:0030398 | Abnormal platelet ATP dense granule secretion |
| HP:0030397 | Abnormal platelet dense granule secretion |
| HP:0030399 | Abnormal platelet alpha granule secretion |
| HP:0030396 | Abnormal platelet granule secretion |
| HP:0030392 | Choroid plexus carcinoma |
| HP:0007376 | Abnormality of the choroid plexus |
| HP:0002118 | Abnormality of the cerebral ventricles |
| HP:0030393 | Endolymphatic sac tumor |
| HP:0030394 | Fallopian tube carcinoma |
| HP:0033020 | Female reproductive system neoplasm |
| http://purl.obolibrary.org/obo/GO_0007142 | male meiosis II |
| http://purl.obolibrary.org/obo/GO_0007135 | meiosis II |
| http://purl.obolibrary.org/obo/GO_0061983 | meiosis II cell cycle process |
| http://purl.obolibrary.org/obo/GO_0007140 | male meiotic nuclear division |
| http://purl.obolibrary.org/obo/GO_0140013 | meiotic nuclear division |
| http://purl.obolibrary.org/obo/GO_1903046 | meiotic cell cycle process |
| http://purl.obolibrary.org/obo/GO_0022402 | cell cycle process |
| http://purl.obolibrary.org/obo/GO_0000280 | nuclear division |
| http://purl.obolibrary.org/obo/GO_0048285 | organelle fission |
| http://purl.obolibrary.org/obo/GO_0022412 | cellular process involved in reproduction in multicellular organism |
| HP:0030390 | Reduced circulating leukotriene C4 concentration |
| HP:0030361 | Abnormal circulating eicosanoid concentration |
| HP:0011022 | Abnormal circulating unsaturated fatty acid concentration |
| HP:0030391 | Spoken Word Recognition Deficit |
| HP:0002463 | Language impairment |
| http://purl.obolibrary.org/obo/UBERON_0003711 | brachiocephalic vein |
| http://purl.obolibrary.org/obo/UBERON_0003713 | splenic vein |
| http://purl.obolibrary.org/obo/CHEBI_26712 | sodium molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33296 | alkali metal molecular entity |
| http://purl.obolibrary.org/obo/UBERON_0003714 | neural tissue |
| http://purl.obolibrary.org/obo/PR_000002981 | lymphocyte antigen 76 (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0003715 | splanchnic nerve |
| http://purl.obolibrary.org/obo/UBERON_0034729 | sympathetic nerve |
| http://purl.obolibrary.org/obo/PR_000002978 | lymphocyte antigen 6G |
| http://purl.obolibrary.org/obo/PR_000002979 | lymphocyte antigen 6A-2/6E-1 |
| http://purl.obolibrary.org/obo/PR_000002976 | Ly-6-like protein |
| http://purl.obolibrary.org/obo/PR_P41272 | CD27 antigen (mouse) |
| http://purl.obolibrary.org/obo/PR_000001963 | CD27 molecule |
| http://purl.obolibrary.org/obo/PR_P16297 | interleukin-2 receptor subunit beta (mouse) |
| http://purl.obolibrary.org/obo/PR_000001381 | interleukin-2 receptor subunit beta |
| HP:0005520 | Chronic disseminated intravascular coagulation |
| HP:0410249 | Increased anti-alpha-gal IgE antibody level |
| HP:0005525 | Spontaneous hemolytic crises |
| HP:0410248 | Increased anti-house dust mite IgE antibody level |
| HP:0005527 | Reduced kininogen activity |
| HP:0005528 | Bone marrow hypocellularity |
| HP:0012145 | Abnormality of multiple cell lineages in the bone marrow |
| HP:0005521 | Disseminated intravascular coagulation |
| HP:0001977 | Abnormal thrombosis |
| HP:0410245 | Decreased circulating IgD |
| HP:0005522 | Pyridoxine-responsive sideroblastic anemia |
| HP:0001924 | Sideroblastic anemia |
| HP:0410247 | Increased anti-animal dander IgE antibody level |
| HP:0410246 | Increased circulating IgD level |
| HP:0410244 | Abnormal circulating IgD level |
| HP:0005524 | Macrocytic hemolytic disease |
| HP:0410230 | Increased anti-nut food product IgE antibody level |
| HP:0410232 | Increased anti-fungi IgE antibody level |
| HP:0005531 | Biphenotypic acute leukemia |
| HP:0002488 | Acute leukemia |
| HP:0410231 | Increased anti-egg IgE antibody level |
| HP:0410238 | Increased anti-plant product IgE antibody level |
| HP:0005537 | Decreased mean platelet volume |
| HP:0005539 | T cell chronic lymphocytic lymphoma/leukemia |
| HP:0005526 | Lymphoid leukemia |
| HP:0410239 | Positive urine norcotinine test |
| HP:0005532 | Macrocytic dyserythropoietic anemia |
| HP:0410234 | Increased anti-parasite IgE antibody level |
| HP:0410233 | Increased anti-meat allergen IgE antibody level |
| HP:0005534 | Transient myeloproliferative syndrome |
| HP:0410236 | Increased anti-venom IgE antibody level |
| HP:0005535 | Exercise-induced hemolysis |
| HP:0410235 | Increased anti-insect IgE antibody level |
| HP:0005540 | Red blood cell keratocytosis |
| HP:0004447 | Poikilocytosis |
| HP:0410262 | Lower cranial nerve dysfunction |
| HP:0031910 | Abnormal cranial nerve physiology |
| HP:0005541 | Congenital agranulocytosis |
| HP:0012234 | Agranulocytosis |
| HP:0001913 | Granulocytopenia |
| HP:0001882 | Leukopenia |
| HP:0410265 | Supraglottic hemangioma |
| HP:0005542 | Prolonged whole-blood clotting time |
| HP:0410264 | Subglottic hemangioma |
| HP:0410261 | Wide space between 4th and 5th toe |
| HP:0010321 | Abnormality of the 4th toe |
| HP:0410260 | Asymmetrical gluteal crease |
| HP:0005547 | Myeloproliferative disorder |
| HP:0005548 | Megakaryocytopenia |
| http://purl.obolibrary.org/obo/CHEBI_61469 | polyanionic polymer |
| http://purl.obolibrary.org/obo/CHEBI_60164 | ionic polymer |
| http://purl.obolibrary.org/obo/CHEBI_60027 | polymer |
| http://purl.obolibrary.org/obo/CHEBI_60004 | mixture |
| http://purl.obolibrary.org/obo/CHEBI_59999 | chemical substance |
| HP:0005543 | Reduced protein C activity |
| HP:0410267 | Intestinal hemangioma |
| HP:0410266 | Visceral hemangioma |
| HP:0410269 | Labial hemangioma |
| HP:0005546 | Increased red cell osmotic resistance |
| HP:0410268 | Spleen hemangioma |
| HP:0005550 | Chronic lymphatic leukemia |
| HP:0410251 | Abnormal L-selectin shedding |
| HP:0410254 | Cyclic neutropenia in myeloid maturation arrest in bone marrow |
| HP:0410253 | Chronic neutropenia in myeloid maturation arrest in bone marrow |
| HP:0410252 | Chronic neutropenia |
| HP:0005559 | Abnormality of the kinin-kallikrein system |
| HP:0410259 | Hepatopulmonary fusion |
| HP:0410256 | Infection associated neutropenia |
| HP:0410255 | Transient neutropenia |
| HP:0005556 | Abnormality of the metopic suture |
| HP:0000290 | Abnormality of the forehead |
| HP:0011329 | Abnormality of cranial sutures |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures |
| HP:0410258 | Neutrophilia in absence of infection |
| HP:0005557 | Abnormality of the zygomatic arch |
| HP:0010668 | Abnormality of the zygomatic bone |
| HP:0410257 | Neutrophilia in presence of infection |
| HP:0011897 | Neutrophilia |
| HP:0410209 | Folate deficiency in CSF |
| HP:0500188 | Decreased CSF valine concentration |
| HP:0500186 | Abnormal CSF valine concentration |
| HP:0500185 | Abnormal CSF branched chain amino acid concentration |
| HP:0500184 | Abnormal CSF amino acid concentration |
| HP:0500183 | Abnormal CSF carboxylic acid concentration |
| HP:0410208 | Positive plasma/serum cotinine test |
| http://purl.obolibrary.org/obo/UBERON_0001068 | skin of back |
| HP:0030507 | Retinal crystals |
| HP:0030508 | Retinal cavernous hemangioma |
| http://purl.obolibrary.org/obo/UBERON_0001064 | ventral pancreatic duct |
| http://purl.obolibrary.org/obo/UBERON_0007329 | pancreatic duct |
| http://purl.obolibrary.org/obo/UBERON_0003928 | digestive system duct |
| HP:0030509 | Retinal racemose hemangioma |
| http://purl.obolibrary.org/obo/UBERON_0001067 | vertebral arch joint |
| HP:0030503 | Macular telangiectasia |
| HP:0007763 | Retinal telangiectasia |
| HP:0030504 | Grouped congenital hypertrophy of retinal pigment epithelium |
| HP:0007649 | Congenital hypertrophy of retinal pigment epithelium |
| HP:0011512 | Hyperpigmentation of the fundus |
| HP:0031605 | Abnormality of fundus pigmentation |
| HP:0410204 | Increased intestinal transit time |
| HP:0410207 | Positive methadone plasma/serum test |
| HP:0500100 | Plasma/serum xenobiotic |
| HP:0030505 | Nummular pigmentation of the fundus |
| HP:0000580 | Pigmentary retinopathy |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0410206 | Increased circulating nicotinurate level |
| HP:0410205 | Abnormal circulating nicotinurate level |
| HP:0410201 | Positive hair barbiturate test |
| HP:0500099 | Hair xenobiotic |
| HP:0410200 | Positive meconium barbiturate test |
| HP:0410203 | Positive gastric fluid barbiturate test |
| HP:0500101 | Gastric fluid xenobiotic |
| HP:0030501 | Macular crystals |
| HP:0030502 | Retinoschisis |
| HP:0410202 | Positive stool barbiturate test |
| http://purl.obolibrary.org/obo/UBERON_0001079 | prezygapophysis |
| http://purl.obolibrary.org/obo/UBERON_0001072 | posterior vena cava |
| http://purl.obolibrary.org/obo/UBERON_0004087 | vena cava |
| http://purl.obolibrary.org/obo/UBERON_0001071 | superficial cervical artery |
| http://purl.obolibrary.org/obo/UBERON_0012320 | cervical artery |
| http://purl.obolibrary.org/obo/UBERON_0001074 | pericardial cavity |
| http://purl.obolibrary.org/obo/UBERON_0002323 | coelemic cavity lumen |
| http://purl.obolibrary.org/obo/UBERON_0035809 | serous cavity |
| http://purl.obolibrary.org/obo/UBERON_0002553 | anatomical cavity |
| http://purl.obolibrary.org/obo/UBERON_0001073 | ileocecal junction |
| http://purl.obolibrary.org/obo/UBERON_0001076 | neural spine |
| http://purl.obolibrary.org/obo/UBERON_0001075 | bony vertebral centrum |
| http://purl.obolibrary.org/obo/UBERON_0016491 | vertebral centrum element |
| http://purl.obolibrary.org/obo/UBERON_0001078 | pedicle of vertebra |
| http://purl.obolibrary.org/obo/UBERON_0001077 | transverse process of vertebra |
| http://purl.obolibrary.org/obo/UBERON_0001070 | external carotid artery |
| http://purl.obolibrary.org/obo/UBERON_0005396 | carotid artery segment |
| HP:0005507 | Hemoglobin Barts |
| HP:0005508 | Monoclonal immunoglobulin M proteinemia |
| HP:0031047 | Paraproteinemia |
| HP:0005523 | Lymphoproliferative disorder |
| http://purl.obolibrary.org/obo/UBERON_0001083 | myocardium of ventricle |
| http://purl.obolibrary.org/obo/UBERON_0002349 | myocardium |
| http://purl.obolibrary.org/obo/UBERON_0018260 | layer of muscle tissue |
| http://purl.obolibrary.org/obo/UBERON_0001082 | epicardium of ventricle |
| http://purl.obolibrary.org/obo/UBERON_0002348 | epicardium |
| http://purl.obolibrary.org/obo/UBERON_0001085 | skin of trunk |
| HP:0410221 | Increased anti-animal protein IgE antibody level |
| HP:0410220 | Increased anti-dairy protein IgE antibody level |
| http://purl.obolibrary.org/obo/UBERON_0001087 | pleural fluid |
| http://purl.obolibrary.org/obo/UBERON_0036244 | secretion of serous membrane |
| http://purl.obolibrary.org/obo/UBERON_0001089 | sweat |
| http://purl.obolibrary.org/obo/UBERON_0001088 | urine |
| http://purl.obolibrary.org/obo/UBERON_0000174 | excreta |
| HP:0410226 | Increased anti-feather IgE antibody level |
| HP:0410229 | Increased anti-gluten IgE antibody level |
| http://purl.obolibrary.org/obo/UBERON_0013069 | popliteal area |
| HP:0005505 | Refractory anemia |
| HP:0005506 | Chronic myelogenous leukemia |
| HP:0005558 | Chronic leukemia |
| HP:0001909 | Leukemia |
| HP:0410228 | Increased anti-plant based food allergen IgE antibody level |
| HP:0410223 | Increased anti-dust mite IgE antibody level |
| HP:0410222 | Increased anti-seafood IgE antibody level |
| HP:0410227 | Increased anti-food allergen IgE antibody level |
| http://purl.obolibrary.org/obo/UBERON_0001081 | endocardium of ventricle |
| http://purl.obolibrary.org/obo/UBERON_0002165 | endocardium |
| HP:0410225 | Increased anti-drug IgE antibody level |
| HP:0005502 | Increased red cell osmotic fragility |
| HP:0020054 | Abnormal erythrocyte physiology |
| http://purl.obolibrary.org/obo/UBERON_0001080 | postzygapophysis |
| http://purl.obolibrary.org/obo/UBERON_0006062 | zygapophysis |
| http://purl.obolibrary.org/obo/UBERON_0006061 | process of vertebra |
| http://purl.obolibrary.org/obo/UBERON_4100000 | skeletal element projection |
| HP:0410224 | Increased anti-bacteria IgE antibody level |
| HP:0032336 | Increased circulating specific IgE antibody |
| HP:0005518 | Increased mean corpuscular volume |
| HP:0025065 | Abnormal mean corpuscular volume |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=399 | ALB (human) |
| http://purl.obolibrary.org/obo/GO_0140243 | regulation of translation at synapse |
| HP:0410219 | Hypoplasia of mandible relative to maxilla |
| http://purl.obolibrary.org/obo/GO_0140241 | translation at synapse |
| http://purl.obolibrary.org/obo/UBERON_0001094 | sacral vertebra |
| http://purl.obolibrary.org/obo/UBERON_0015010 | sacral vertebra endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001093 | vertebral bone 2 |
| http://purl.obolibrary.org/obo/UBERON_0001096 | wall of esophagus |
| http://purl.obolibrary.org/obo/UBERON_0000328 | gut wall |
| http://purl.obolibrary.org/obo/UBERON_0001095 | caudal vertebra |
| http://purl.obolibrary.org/obo/UBERON_0018142 | caudal vertebra endochondral element |
| HP:0410215 | Hypocapnia in cord blood |
| HP:0012417 | Hypocapnia |
| HP:0410218 | Hypoplasia of maxilla relative to mandible |
| HP:0000327 | Hypoplasia of the maxilla |
| HP:0009117 | Aplasia/Hypoplasia of the maxilla |
| HP:0005517 | T-cell lymphoma/leukemia |
| HP:0012190 | T-cell lymphoma |
| HP:0012539 | Non-Hodgkin lymphoma |
| HP:0002665 | Lymphoma |
| HP:0004377 | Hematological neoplasm |
| HP:0410217 | Reduced blood 5-methyltetrahydrofolate level |
| HP:0410216 | Abnormal blood 5-methyltetrahydrofolate level |
| HP:0005510 | Transient erythroblastopenia |
| HP:0410212 | Hyperoxemia in cord blood |
| HP:0012419 | Hyperoxemia |
| http://purl.obolibrary.org/obo/UBERON_0001090 | synovial fluid |
| http://purl.obolibrary.org/obo/UBERON_0007794 | secretion of serous gland |
| http://purl.obolibrary.org/obo/UBERON_0000456 | secretion of exocrine gland |
| http://purl.obolibrary.org/obo/UBERON_0007779 | transudate |
| http://purl.obolibrary.org/obo/UBERON_0006314 | bodily fluid |
| http://purl.obolibrary.org/obo/UBERON_0000463 | organism substance |
| HP:0005511 | Heinz body anemia |
| HP:0001878 | Hemolytic anemia |
| HP:0011895 | Anemia due to reduced life span of red cells |
| HP:0005512 | Impaired neutrophil killing of staphylococci |
| HP:0410214 | Hypercapnia in cord blood |
| HP:0500258 | Abnormal carbon dioxide level in cord blood |
| HP:0012416 | Hypercapnia |
| HP:0500164 | Abnormal blood carbon dioxide level |
| http://purl.obolibrary.org/obo/UBERON_0001092 | vertebral bone 1 |
| http://purl.obolibrary.org/obo/UBERON_0002412 | vertebra |
| http://purl.obolibrary.org/obo/UBERON_0010913 | vertebral element |
| HP:0005513 | Increased megakaryocyte count |
| HP:0012143 | Abnormal megakaryocyte morphology |
| HP:0410213 | Hypoxemia in cord blood |
| HP:0500259 | Abnormal oxygen level in cord blood |
| HP:0410211 | Abnormal blood gas level in cord blood |
| HP:0410210 | Abnormal cord blood measurement |
| HP:0030540 | Unaided visual acuity 0.5 LogMAR |
| HP:0030541 | Unaided visual acuity 0.6 LogMAR |
| HP:0030542 | Unaided visual acuity 0.7 LogMAR |
| http://purl.obolibrary.org/obo/UBERON_0003687 | foramen magnum |
| http://purl.obolibrary.org/obo/UBERON_0001027 | sensory nerve |
| http://purl.obolibrary.org/obo/UBERON_0003689 | sella turcica |
| http://purl.obolibrary.org/obo/UBERON_0001028 | diaphysis of radius |
| http://purl.obolibrary.org/obo/UBERON_0003681 | masticatory muscle |
| http://purl.obolibrary.org/obo/UBERON_0018544 | trigeminal nerve muscle |
| http://purl.obolibrary.org/obo/UBERON_0011648 | jaw muscle |
| http://purl.obolibrary.org/obo/UBERON_0002376 | cranial muscle |
| http://purl.obolibrary.org/obo/UBERON_0003682 | palatal muscle |
| http://purl.obolibrary.org/obo/UBERON_0010959 | craniocervical muscle |
| http://purl.obolibrary.org/obo/UBERON_0003684 | abdominal cavity |
| http://purl.obolibrary.org/obo/UBERON_0003685 | cranial suture |
| http://purl.obolibrary.org/obo/UBERON_0009198 | craniofacial suture |
| HP:0030547 | Unaided visual acuity 1.2 LogMAR |
| HP:0030548 | Unaided visual acuity 1.3 LogMAR |
| HP:0030549 | Unaided visual acuity 2.0 LogMAR |
| HP:0030543 | Unaided visual acuity 0.8 LogMAR |
| HP:0030544 | Unaided visual acuity 0.9 LogMAR |
| HP:0030545 | Unaided visual acuity 1.0 LogMAR |
| HP:0030546 | Unaided visual acuity 1.1 LogMAR |
| HP:0030530 | Arcuate scotoma |
| HP:0030531 | Altitudinal visual field defect |
| http://purl.obolibrary.org/obo/CHEBI_24436 | guanidines |
| http://purl.obolibrary.org/obo/UBERON_0003697 | abdominal wall |
| http://purl.obolibrary.org/obo/UBERON_0000060 | anatomical wall |
| http://purl.obolibrary.org/obo/UBERON_0003698 | subtalar joint |
| http://purl.obolibrary.org/obo/UBERON_0008447 | intertarsal joint |
| http://purl.obolibrary.org/obo/UBERON_0003699 | pubic symphysis |
| http://purl.obolibrary.org/obo/UBERON_0002216 | symphysis |
| http://purl.obolibrary.org/obo/UBERON_0002213 | cartilaginous joint |
| http://purl.obolibrary.org/obo/UBERON_0002209 | fibrous joint |
| http://purl.obolibrary.org/obo/UBERON_0011134 | nonsynovial joint |
| http://purl.obolibrary.org/obo/UBERON_0003690 | fused sacrum |
| http://purl.obolibrary.org/obo/UBERON_0005179 | pelvic region element |
| http://purl.obolibrary.org/obo/UBERON_0004247 | bone of dorsum |
| http://purl.obolibrary.org/obo/UBERON_0008001 | irregular bone |
| http://purl.obolibrary.org/obo/UBERON_0006075 | sacral region of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0006077 | subdivision of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0003828 | abdominal segment bone |
| http://purl.obolibrary.org/obo/UBERON_0003691 | epidural space |
| http://purl.obolibrary.org/obo/UBERON_0010276 | space in vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0003692 | acromioclavicular joint |
| http://purl.obolibrary.org/obo/UBERON_0016884 | shoulder joint |
| http://purl.obolibrary.org/obo/UBERON_0011108 | synovial joint of pectoral girdle |
| http://purl.obolibrary.org/obo/UBERON_0008114 | joint of girdle |
| http://purl.obolibrary.org/obo/UBERON_0003693 | retroperitoneal space |
| http://purl.obolibrary.org/obo/UBERON_0003694 | atlanto-axial joint |
| http://purl.obolibrary.org/obo/UBERON_0003695 | metacarpophalangeal joint |
| http://purl.obolibrary.org/obo/UBERON_0001489 | manus joint |
| http://purl.obolibrary.org/obo/UBERON_0003839 | forelimb joint |
| http://purl.obolibrary.org/obo/UBERON_0003696 | metatarsophalangeal joint |
| http://purl.obolibrary.org/obo/UBERON_0001487 | pes joint |
| http://purl.obolibrary.org/obo/UBERON_0003840 | hindlimb joint |
| http://purl.obolibrary.org/obo/UBERON_0003841 | autopod joint |
| http://purl.obolibrary.org/obo/UBERON_0011139 | synovial limb joint |
| http://purl.obolibrary.org/obo/UBERON_0002217 | synovial joint |
| http://purl.obolibrary.org/obo/UBERON_0001033 | gustatory system |
| HP:0030536 | Unaided visual acuity 0.1 LogMAR |
| HP:0030537 | Unaided visual acuity 0.2 LogMAR |
| HP:0030538 | Unaided visual acuity 0.3 LogMAR |
| HP:0030539 | Unaided visual acuity 0.4 LogMAR |
| HP:0030520 | Binasal hemianopia |
| http://purl.obolibrary.org/obo/UBERON_0001046 | hindgut |
| http://purl.obolibrary.org/obo/UBERON_0001049 | neural tube |
| http://purl.obolibrary.org/obo/UBERON_0016879 | future central nervous system |
| http://purl.obolibrary.org/obo/UBERON_0001041 | foregut |
| http://purl.obolibrary.org/obo/UBERON_0001040 | yolk sac |
| http://purl.obolibrary.org/obo/UBERON_0007499 | epithelial sac |
| http://purl.obolibrary.org/obo/UBERON_0003914 | epithelial tube |
| http://purl.obolibrary.org/obo/UBERON_0009856 | sac |
| HP:0030529 | Ring scotoma |
| http://purl.obolibrary.org/obo/UBERON_0001043 | esophagus |
| http://purl.obolibrary.org/obo/UBERON_0001042 | chordate pharynx |
| http://purl.obolibrary.org/obo/UBERON_0006562 | pharynx |
| http://purl.obolibrary.org/obo/UBERON_0001045 | midgut |
| http://purl.obolibrary.org/obo/UBERON_0001044 | saliva-secreting gland |
| HP:0030525 | Moderate constriction of peripheral visual field |
| HP:0030526 | Severe constriction of peripheral visual field |
| http://purl.obolibrary.org/obo/PR_P06729 | T-cell surface antigen CD2 (human) |
| HP:0030527 | Very severe constriction of peripheral visual field |
| HP:0030528 | Paracentral scotoma |
| HP:0000575 | Scotoma |
| HP:0030521 | Bitemporal hemianopia |
| HP:0030522 | Mild constriction of peripheral visual field |
| HP:0001133 | Constriction of peripheral visual field |
| http://purl.obolibrary.org/obo/PR_P06745 | glucose-6-phosphate isomerase (mouse) |
| http://purl.obolibrary.org/obo/PR_P06744 | glucose-6-phosphate isomerase (human) |
| http://purl.obolibrary.org/obo/PR_000008175 | glucose-6-phosphate isomerase |
| http://purl.obolibrary.org/obo/UBERON_0001052 | rectum |
| http://purl.obolibrary.org/obo/UBERON_0004921 | subdivision of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0001051 | hypopharynx |
| HP:0030518 | Congruous homonymous hemianopia |
| HP:0030519 | Congruous heteronymous hemianopia |
| HP:0030514 | Difficulty adjusting from dark to light |
| HP:0030515 | Moderately reduced visual acuity |
| HP:0030516 | Homonymous hemianopia |
| HP:0030517 | Heteronymous hemianopia |
| HP:0012377 | Hemianopia |
| HP:0030510 | Combined hamartoma of the retinal pigment epithelium and retina |
| HP:0009594 | Retinal hamartoma |
| HP:0010568 | Hamartoma of the eye |
| HP:0100012 | Neoplasm of the eye |
| http://purl.obolibrary.org/obo/PR_000009054 | insulin |
| http://purl.obolibrary.org/obo/PR_000045358 | insulin family protein |
| HP:0030511 | Bradyopsia |
| HP:0030513 | Difficulty adjusting from light to dark |
| HP:0030512 | Difficulty adjusting to changes in luminance |
| HP:0030583 | Pinhole visual acuity 3.0 LogMAR |
| HP:0030585 | Red desaturation |
| HP:0030586 | Abnormal Ishihara plate test |
| HP:0030580 | Pinhole visual acuity 1.2 LogMAR |
| HP:0030581 | Pinhole visual acuity 1.3 LogMAR |
| HP:0030582 | Pinhole visual acuity 2.0 LogMAR |
| http://purl.obolibrary.org/obo/UBERON_0003642 | pedal digit 3 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015033 | pedal digit 3 phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003644 | kidney arterial blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003645 | metacarpal bone of digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0015043 | manual digit 1 metacarpus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003646 | metacarpal bone of digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0015044 | manual digit 2 metacarpus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003647 | metacarpal bone of digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0015045 | manual digit 3 metacarpus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003648 | metacarpal bone of digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0015046 | manual digit 4 metacarpus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003649 | metacarpal bone of digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0002374 | metacarpal bone |
| http://purl.obolibrary.org/obo/UBERON_0015047 | manual digit 5 metacarpus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015042 | manual digit metacarpus endochondral element |
| HP:0005561 | Abnormality of bone marrow cell morphology |
| HP:0005562 | Multiple renal cysts |
| HP:0000107 | Renal cyst |
| HP:0005563 | Decreased numbers of nephrons |
| HP:0005564 | Absence of renal corticomedullary differentiation |
| http://purl.obolibrary.org/obo/UBERON_0003640 | pedal digit 1 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015031 | pedal digit 1 phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003641 | pedal digit 2 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0001449 | phalanx of pes |
| http://purl.obolibrary.org/obo/UBERON_0004248 | pedal digit bone |
| http://purl.obolibrary.org/obo/UBERON_0015032 | pedal digit 2 phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015030 | pedal digit phalanx endochondral element |
| HP:0005560 | Imbalanced hemoglobin synthesis |
| HP:0005565 | Reduced renal corticomedullary differentiation |
| HP:0030587 | Abnormal Hardy-Rand-Rittler plate test |
| HP:0030584 | Color vision test abnormality |
| HP:0000551 | Color vision defect |
| HP:0005567 | Renal magnesium wasting |
| HP:0012607 | Abnormal urine magnesium concentration |
| HP:0030589 | Abnormal confrontational visual field test |
| HP:0030572 | Pinhole visual acuity 0.4 LogMAR |
| HP:0030573 | Pinhole visual acuity 0.5 LogMAR |
| http://purl.obolibrary.org/obo/CHEBI_61409 | dihydroxyphenylacetic acid |
| http://purl.obolibrary.org/obo/CHEBI_25978 | phenylacetic acids |
| http://purl.obolibrary.org/obo/CHEBI_35972 | dihydroxy monocarboxylic acid |
| HP:0030574 | Pinhole visual acuity 0.6 LogMAR |
| HP:0030575 | Pinhole visual acuity 0.7 LogMAR |
| HP:0030570 | Pinhole visual acuity 0.2 LogMAR |
| HP:0030571 | Pinhole visual acuity 0.3 LogMAR |
| http://purl.obolibrary.org/obo/UBERON_0003653 | metatarsal bone of digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0013584 | metapodium bone 4 |
| http://purl.obolibrary.org/obo/UBERON_0015040 | pedal digit 4 metatarsal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003654 | metatarsal bone of digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0013585 | metapodium bone 5 |
| http://purl.obolibrary.org/obo/UBERON_0015041 | pedal digit 5 metatarsal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003656 | mesopodium bone |
| http://purl.obolibrary.org/obo/UBERON_0013630 | short bone |
| http://purl.obolibrary.org/obo/UBERON_0003657 | limb joint |
| http://purl.obolibrary.org/obo/UBERON_0000982 | skeletal joint |
| http://purl.obolibrary.org/obo/UBERON_0004905 | articulation |
| http://purl.obolibrary.org/obo/UBERON_0003658 | hip muscle |
| http://purl.obolibrary.org/obo/UBERON_0003659 | pedal digit muscle |
| http://purl.obolibrary.org/obo/UBERON_0001498 | muscle of pes |
| HP:0005572 | Decreased renal tubular phosphate excretion |
| HP:0005574 | Non-acidotic proximal tubulopathy |
| HP:0000114 | Proximal tubulopathy |
| HP:0000124 | Renal tubular dysfunction |
| HP:0005575 | Hemolytic-uremic syndrome |
| http://purl.obolibrary.org/obo/UBERON_0003650 | metatarsal bone of digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0015037 | pedal digit 1 metatarsal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0013581 | metapodium bone 1 |
| http://purl.obolibrary.org/obo/UBERON_0003651 | metatarsal bone of digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0015038 | pedal digit 2 metatarsal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0013582 | metapodium bone 2 |
| HP:0005571 | Increased renal tubular phosphate reabsorption |
| http://purl.obolibrary.org/obo/UBERON_0003652 | metatarsal bone of digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0013583 | metapodium bone 3 |
| http://purl.obolibrary.org/obo/UBERON_0015039 | pedal digit 3 metatarsal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001448 | metatarsal bone |
| http://purl.obolibrary.org/obo/UBERON_0015036 | pedal digit metatarsal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003821 | metapodium bone |
| http://purl.obolibrary.org/obo/UBERON_0012359 | pedal digitopodium bone |
| http://purl.obolibrary.org/obo/CHEBI_85425 | glycine transporter inhibitor |
| HP:0005576 | Tubulointerstitial fibrosis |
| HP:0001969 | Abnormal tubulointerstitial morphology |
| HP:0032581 | Abnormal renal insterstitial morphology |
| HP:0030576 | Pinhole visual acuity 0.8 LogMAR |
| HP:0030577 | Pinhole visual acuity 0.9 LogMAR |
| HP:0030578 | Pinhole visual acuity 1.0 LogMAR |
| HP:0005579 | Impaired reabsorption of chloride |
| HP:0011038 | Abnormality of renal resorption |
| HP:0011036 | Abnormality of renal excretion |
| HP:0012211 | Abnormal renal physiology |
| HP:0030579 | Pinhole visual acuity 1.1 LogMAR |
| HP:0030561 | Best corrected visual acuity 0.8 LogMAR |
| HP:0030562 | Best corrected visual acuity 0.9 LogMAR |
| HP:0030563 | Best corrected visual acuity 1.0 LogMAR |
| HP:0030564 | Best corrected visual acuity 1.1 LogMAR |
| HP:0030560 | Best corrected visual acuity 0.6 LogMAR |
| http://purl.obolibrary.org/obo/UBERON_0003664 | manual digit muscle |
| http://purl.obolibrary.org/obo/UBERON_0001500 | muscle of manus |
| http://purl.obolibrary.org/obo/UBERON_0001003 | skin epidermis |
| http://purl.obolibrary.org/obo/UBERON_3000961 | external integument structure |
| http://purl.obolibrary.org/obo/UBERON_0007376 | outer epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003665 | post-anal tail muscle |
| http://purl.obolibrary.org/obo/UBERON_0004518 | muscle of vertebral column |
| http://purl.obolibrary.org/obo/UBERON_0003666 | upper jaw molar |
| http://purl.obolibrary.org/obo/UBERON_0011593 | maxillary tooth |
| http://purl.obolibrary.org/obo/UBERON_0001005 | respiratory airway |
| http://purl.obolibrary.org/obo/UBERON_0001004 | respiratory system |
| http://purl.obolibrary.org/obo/UBERON_0003667 | lower jaw molar |
| http://purl.obolibrary.org/obo/UBERON_0003655 | molar tooth |
| http://purl.obolibrary.org/obo/UBERON_0013164 | molariform tooth |
| http://purl.obolibrary.org/obo/UBERON_0011594 | dentary tooth |
| http://purl.obolibrary.org/obo/UBERON_0001007 | digestive system |
| http://purl.obolibrary.org/obo/UBERON_0001009 | circulatory system |
| http://purl.obolibrary.org/obo/UBERON_0001008 | renal system |
| HP:0005583 | Tubular basement membrane disintegration |
| HP:0020131 | Abnormal tubular basement membrane morphology |
| HP:0000091 | Abnormal renal tubule morphology |
| HP:0005584 | Renal cell carcinoma |
| HP:0009726 | Renal neoplasm |
| HP:0010786 | Urinary tract neoplasm |
| HP:0005585 | Spotty hyperpigmentation |
| HP:0005586 | Hyperpigmentation in sun-exposed areas |
| http://purl.obolibrary.org/obo/UBERON_0003660 | eyelid muscle |
| HP:0005580 | Duplication of renal pelvis |
| HP:0010944 | Abnormal renal pelvis morphology |
| HP:0000075 | Renal duplication |
| http://purl.obolibrary.org/obo/UBERON_0003662 | forelimb muscle |
| http://purl.obolibrary.org/obo/UBERON_0014794 | pectoral appendage muscle |
| http://purl.obolibrary.org/obo/UBERON_0010891 | pectoral complex muscle |
| http://purl.obolibrary.org/obo/UBERON_0003663 | hindlimb muscle |
| http://purl.obolibrary.org/obo/UBERON_0003661 | limb muscle |
| http://purl.obolibrary.org/obo/UBERON_0014795 | pelvic appendage muscle |
| http://purl.obolibrary.org/obo/UBERON_0010890 | pelvic complex muscle |
| http://purl.obolibrary.org/obo/UBERON_0014892 | skeletal muscle organ |
| http://purl.obolibrary.org/obo/UBERON_0001630 | muscle organ |
| http://purl.obolibrary.org/obo/UBERON_0005090 | muscle structure |
| http://purl.obolibrary.org/obo/UBERON_0001000 | vas deferens |
| HP:0030569 | Pinhole visual acuity 0.1 LogMAR |
| HP:0030535 | Abnormal pinhole visual acuity test |
| HP:0030565 | Best corrected visual acuity 1.2 LogMAR |
| HP:0005587 | Profuse pigmented skin lesions |
| HP:0030566 | Best corrected visual acuity 1.3 LogMAR |
| HP:0005588 | Patchy palmoplantar keratoderma |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0030567 | Best corrected visual acuity 2.0 LogMAR |
| HP:0030568 | Best corrected visual acuity 3.0 LogMAR |
| HP:0030550 | Unaided visual acuity 3.0 LogMAR |
| HP:0030533 | Abnormal unaided visual acuity test |
| HP:0030551 | Visual acuity light perception with projection |
| HP:0030552 | Visual acuity light perception without projection |
| HP:0030553 | Visual acuity no light perception |
| http://purl.obolibrary.org/obo/UBERON_0003675 | tooth crown |
| http://purl.obolibrary.org/obo/UBERON_0001016 | nervous system |
| http://purl.obolibrary.org/obo/UBERON_0003677 | tooth root |
| http://purl.obolibrary.org/obo/UBERON_0001015 | musculature |
| http://purl.obolibrary.org/obo/UBERON_0003679 | mouth floor |
| http://purl.obolibrary.org/obo/UBERON_0001444 | subdivision of head |
| http://purl.obolibrary.org/obo/UBERON_0001017 | central nervous system |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=317 | AFP (human) |
| HP:0005595 | Generalized hyperkeratosis |
| HP:0005597 | Congenital alopecia totalis |
| HP:0007418 | Alopecia totalis |
| HP:0001596 | Alopecia |
| HP:0005590 | Spotty hypopigmentation |
| http://purl.obolibrary.org/obo/UBERON_0001010 | diaphysis of ulna |
| http://purl.obolibrary.org/obo/UBERON_0004769 | diaphysis |
| http://purl.obolibrary.org/obo/UBERON_0003672 | dentition |
| http://purl.obolibrary.org/obo/UBERON_0034925 | anatomical collection |
| HP:0005592 | Giant melanosomes in melanocytes |
| HP:0011125 | Abnormality of dermal melanosomes |
| http://purl.obolibrary.org/obo/UBERON_0001012 | head of radius |
| http://purl.obolibrary.org/obo/UBERON_0003674 | cuspid |
| HP:0005593 | Macular hypopigmented whorls, streaks, and patches |
| HP:0001053 | Hypopigmented skin patches |
| HP:0030558 | Best corrected visual acuity 0.5 LogMAR |
| HP:0030559 | Best corrected visual acuity 0.7 LogMAR |
| HP:0005598 | Facial telangiectasia in butterfly midface distribution |
| HP:0007380 | Facial telangiectasia |
| HP:0100585 | Telangiectasia of the skin |
| HP:0001009 | Telangiectasia |
| HP:0030554 | Best corrected visual acuity 0.1 LogMAR |
| HP:0005599 | Hypopigmentation of hair |
| HP:0009887 | Abnormality of hair pigmentation |
| HP:0030555 | Best corrected visual acuity 0.2 LogMAR |
| HP:0030556 | Best corrected visual acuity 0.3 LogMAR |
| HP:0030557 | Best corrected visual acuity 0.4 LogMAR |
| HP:0030534 | Abnormal best corrected visual acuity test |
| HP:0030532 | Visual acuity test abnormality |
| HP:0007663 | Reduced visual acuity |
| http://purl.obolibrary.org/obo/UBERON_0003608 | hindlimb long bone |
| http://purl.obolibrary.org/obo/UBERON_0003609 | aorta elastic tissue |
| http://purl.obolibrary.org/obo/UBERON_0003601 | neck cartilage |
| http://purl.obolibrary.org/obo/UBERON_0003604 | trachea cartilage |
| http://purl.obolibrary.org/obo/UBERON_0003603 | lower respiratory tract cartilage |
| http://purl.obolibrary.org/obo/GO_0019438 | aromatic compound biosynthetic process |
| http://purl.obolibrary.org/obo/PR_P16110 | galectin-3 (mouse) |
| http://purl.obolibrary.org/obo/PR_000009771 | galectin-3 |
| http://purl.obolibrary.org/obo/UBERON_0003617 | trachea elastic tissue |
| HP:0030496 | Macular exudate |
| http://purl.obolibrary.org/obo/UBERON_0003618 | aorta tunica media |
| http://purl.obolibrary.org/obo/UBERON_0002522 | tunica media |
| http://purl.obolibrary.org/obo/UBERON_0003619 | aorta tunica intima |
| HP:0030497 | Macular cotton wool spot |
| HP:0031606 | Retinal cotton wool spot |
| HP:0030491 | Choriocapillaris atrophy |
| HP:0000533 | Chorioretinal atrophy |
| HP:0001105 | Retinal atrophy |
| HP:0200065 | Chorioretinal degeneration |
| HP:0000546 | Retinal degeneration |
| HP:0030493 | Abnormality of foveal pigmentation |
| HP:0008002 | Abnormality of macular pigmentation |
| HP:0030494 | Macular microaneurysm/hemorrhage |
| HP:0030495 | Abnormality morphology of the macular vasculature |
| HP:0032416 | Retinal microaneurysm |
| http://purl.obolibrary.org/obo/UBERON_0003610 | heart elastic tissue |
| HP:0030490 | Exudative vitreoretinopathy |
| http://purl.obolibrary.org/obo/UBERON_0003614 | blood vessel elastic tissue |
| http://purl.obolibrary.org/obo/UBERON_0003613 | cardiovascular system elastic tissue |
| http://purl.obolibrary.org/obo/UBERON_0003615 | lung elastic tissue |
| http://purl.obolibrary.org/obo/UBERON_0000114 | lung connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003616 | bronchus elastic tissue |
| http://purl.obolibrary.org/obo/UBERON_0003611 | respiratory system elastic tissue |
| http://purl.obolibrary.org/obo/UBERON_0002521 | elastic tissue |
| HP:0030499 | Macular drusen |
| HP:0011510 | Drusen |
| HP:0030500 | Yellow/white lesions of the macula |
| HP:0030484 | Supernormal dark-adapted bright flash electroretinogram b-wave |
| HP:0030485 | Abnormal amplitude of pattern electroretinogram |
| HP:0030486 | Abnormal timing of pattern electroretinogram |
| HP:0030487 | Abnormal P50/N95 ratio of pattern electroretinogram |
| HP:0030480 | Abnormal timing of light-adapted flicker electroretinogram |
| HP:0030481 | Abnormal amplitude of light-adapted single flash electroretinogram |
| HP:0030482 | Abnormal timing of light-adapted single flash electroretinogram |
| HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave |
| http://purl.obolibrary.org/obo/UBERON_0003620 | manual digit 1 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015025 | manual digit 1 phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003622 | manual digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0003623 | manual digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0003624 | manual digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0019232 | manual digit 2, 3 or 4 |
| http://purl.obolibrary.org/obo/UBERON_0003625 | manual digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0019231 | manual digit 1 or 5 |
| http://purl.obolibrary.org/obo/UBERON_0002389 | manual digit |
| HP:0030488 | Abnormal central response of multifocal electroretinogram |
| HP:0030489 | Abnormal paracentral response of multifocal electroretinogram |
| HP:0030468 | Abnormal multifocal electroretinogram |
| http://purl.obolibrary.org/obo/UBERON_0003639 | manual digit 5 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015029 | manual digit 5 phalanx endochondral element |
| HP:0030474 | Undetectable dark-adapted electroretinogram |
| HP:0030475 | Abnormal timing of dark-adapted dim flash electroretinogram |
| HP:0030476 | Abnormal amplitude of dark-adapted dim flash electroretinogram |
| HP:0030471 | Abnormal dark-adapted dim flash electroretinogram |
| HP:0030472 | Abnormal light-adapted single flash electroretinogram |
| http://purl.obolibrary.org/obo/UBERON_0003631 | pedal digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0006048 | digit 1 |
| http://purl.obolibrary.org/obo/UBERON_0003632 | pedal digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0006049 | digit 2 |
| http://purl.obolibrary.org/obo/UBERON_0003633 | pedal digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0006050 | digit 3 |
| http://purl.obolibrary.org/obo/UBERON_0003634 | pedal digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0006051 | digit 4 |
| http://purl.obolibrary.org/obo/UBERON_0019242 | pedal digit 2, 3 or 4 |
| http://purl.obolibrary.org/obo/UBERON_0019222 | digit 2, 3 or 4 |
| http://purl.obolibrary.org/obo/UBERON_0003635 | pedal digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0019241 | pedal digit 1 or 5 |
| http://purl.obolibrary.org/obo/UBERON_0001466 | pedal digit |
| http://purl.obolibrary.org/obo/UBERON_0006052 | digit 5 |
| http://purl.obolibrary.org/obo/UBERON_0019221 | digit 1 or 5 |
| http://purl.obolibrary.org/obo/UBERON_0002544 | digit |
| http://purl.obolibrary.org/obo/UBERON_0003636 | manual digit 2 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015026 | manual digit 2 phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003637 | manual digit 3 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015027 | manual digit 3 phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0003638 | manual digit 4 phalanx |
| http://purl.obolibrary.org/obo/UBERON_0015028 | manual digit 4 phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0001436 | phalanx of manus |
| http://purl.obolibrary.org/obo/UBERON_0015024 | manual digit phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0004249 | manual digit bone |
| http://purl.obolibrary.org/obo/UBERON_0012358 | manual digitopodium bone |
| http://purl.obolibrary.org/obo/UBERON_0003607 | forelimb long bone |
| HP:0030477 | Abnormal timing of dark-adapted bright flash electroretinogram |
| HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram |
| HP:0030470 | Abnormal dark-adapted bright flash electroretinogram |
| HP:0030469 | Abnormal dark-adapted electroretinogram |
| HP:0030479 | Abnormal amplitude of light-adapted flicker electroretinogram |
| HP:0030473 | Abnormal light-adapted flicker electroretinogram |
| HP:0008275 | Abnormal light-adapted electroretinogram |
| HP:0030466 | Abnormal full-field electroretinogram |
| http://purl.obolibrary.org/obo/CHEBI_24400 | glycoside |
| http://purl.obolibrary.org/obo/CHEBI_63161 | glycosyl compound |
| http://purl.obolibrary.org/obo/CHEBI_73398 | indole skeleton |
| HP:0410197 | Increased uridine diphosphate glucose-4-epimerase level in red blood cells |
| HP:0410199 | Increased CSF urate concentration |
| HP:0500117 | Abnormal CSF urate concentration |
| HP:0410198 | Decreased uridine diphosphate glucose-4-epimerase level in red blood cells |
| HP:0410196 | Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells |
| HP:0410195 | Decreased uridine diphosphate glucose-4-epimerase level in plasma |
| HP:0410194 | Increased uridine diphosphate glucose-4-epimerase level in plasma |
| HP:0410193 | Abnormal uridine diphosphate glucose-4-epimerase level in plasma |
| HP:0410192 | Abnormal uridine diphosphate glucose-4-epimerase level |
| http://purl.obolibrary.org/obo/GO_0044403 | symbiosis, encompassing mutualism through parasitism |
| http://purl.obolibrary.org/obo/PR_P16150 | leukosialin (human) |
| http://purl.obolibrary.org/obo/PR_000001879 | leukosialin |
| HP:0410166 | Defective interstrand cross-link repair |
| HP:0410168 | Abnormality of the back musculature |
| HP:0410167 | Abnormal morphology of the chest musculature |
| HP:0410169 | Abnormal morphology of the shoulder musculature |
| http://purl.obolibrary.org/obo/PR_P41159 | leptin (human) |
| HP:0410153 | Increased level of methylsuccinic acid in urine |
| HP:0410152 | Eosinophilic microabscess formation in the esophagus |
| http://purl.obolibrary.org/obo/PR_P41160 | leptin (mouse) |
| http://purl.obolibrary.org/obo/PR_000009758 | leptin |
| HP:0410154 | Increased level of myristic acid in serum |
| HP:0410151 | Eosinophilic infiltration of the esophagus |
| HP:0100633 | Esophagitis |
| HP:0002031 | Abnormal esophagus morphology |
| HP:0410157 | Increased level of N-acetylneuraminic acid in fibroblasts |
| HP:0410156 | Increased level of N-acetylneuraminic acid in urine |
| HP:0410158 | Increased level of O-phosphoethanolamine in urine |
| HP:0410191 | Increased glucose-6-phosphate dehydrogenase level in leukocytes |
| HP:0410190 | Decreased glucose-6-phosphate dehydrogenase level in leukocytes |
| HP:0410186 | Increased glucose-6-phosphate dehydrogenase level in tissue |
| HP:0410188 | Decreased glucose-6-phosphate dehydrogenase level in red blood cells |
| HP:0410187 | Decreased glucose-6-phosphate dehydrogenase level in tissue |
| HP:0410185 | Abnormal glucose-6-phosphate dehydrogenase level in tissue |
| HP:0410182 | Decreased glucose-6-phosphate dehydrogenase level in dried blood spot |
| HP:0410181 | Increased glucose-6-phosphate dehydrogenase level in dried blood spot |
| HP:0410183 | Abnormal glucose-6-phosphate dehydrogenase level in leukocytes |
| HP:0410189 | Increased glucose-6-phosphate dehydrogenase level in red blood cells |
| HP:0410184 | Abnormal glucose-6-phosphate dehydrogenase level in red blood cells |
| http://purl.obolibrary.org/obo/GO_0007422 | peripheral nervous system development |
| HP:0410180 | Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot |
| http://purl.obolibrary.org/obo/GO_0007417 | central nervous system development |
| HP:0410174 | Increased troponin T level in blood |
| HP:0410171 | Increased cotinine level |
| HP:0410170 | Hippocampal atrophy |
| HP:0007369 | Atrophy/Degeneration affecting the cerebrum |
| HP:0012444 | Brain atrophy |
| HP:0025100 | Abnormal morphology of the hippocampus |
| HP:0007343 | Abnormal morphology of the limbic system |
| HP:0410173 | Increased troponin I level in blood |
| HP:0500020 | Abnormal cardiac biomarker test |
| HP:0410179 | Decreased glucose-6-phosphate dehydrogenase level in blood |
| HP:0410178 | Increased glucose-6-phosphate dehydrogenase level in blood |
| HP:0410177 | Abnormal glucose-6-phosphate dehydrogenase level in blood |
| HP:0410176 | Abnormal glucose-6-phosphate dehydrogenase level |
| http://purl.obolibrary.org/obo/CHEBI_48355 | non-polar solvent |
| HP:0410362 | Decreased O-mannosyl glycans on alpha-dystroglycan |
| HP:0410361 | Decreased core 1 O-glycan level |
| HP:0410364 | Decreased monosialylated core 1 O-glycan level |
| HP:0005640 | Abnormal vertebral segmentation and fusion |
| HP:0410363 | Increased monosialylated core 1 O-glycan level |
| HP:0410360 | Increased core 1 O-glycan level |
| HP:0410369 | Increased hepatitis B virus antibody level |
| HP:0005648 | Bilateral ulnar hypoplasia |
| HP:0410366 | Increased globoside Gb4 level |
| HP:0410365 | Increased disialylated core 1 O-glycan level |
| HP:0012362 | Abnormal sialylation of O-linked protein glycosylation |
| HP:0005643 | Short 3rd toe |
| HP:0010320 | Abnormality of the 3rd toe |
| HP:0410368 | Increased globoside Gb3 level |
| HP:0410367 | Increased hepatitis A virus antibody level |
| HP:0005645 | Intervertebral disk calcification |
| HP:0100593 | Calcification of cartilage |
| HP:0005108 | Abnormality of the intervertebral disk |
| http://purl.obolibrary.org/obo/GO_0140103 | catalytic activity, acting on a glycoprotein |
| http://purl.obolibrary.org/obo/GO_0140096 | catalytic activity, acting on a protein |
| http://purl.obolibrary.org/obo/CHEBI_24396 | glycopeptide |
| HP:0005650 | Cutaneous syndactyly between fingers 2 and 5 |
| HP:0010554 | Cutaneous finger syndactyly |
| http://purl.obolibrary.org/obo/CHEBI_48360 | amphiprotic solvent |
| http://purl.obolibrary.org/obo/CHEBI_48359 | protophilic solvent |
| http://purl.obolibrary.org/obo/CHEBI_39142 | Bronsted base |
| http://purl.obolibrary.org/obo/CHEBI_15339 | acceptor |
| http://purl.obolibrary.org/obo/CHEBI_22695 | base |
| http://purl.obolibrary.org/obo/CHEBI_48356 | protic solvent |
| http://purl.obolibrary.org/obo/CHEBI_48354 | polar solvent |
| http://purl.obolibrary.org/obo/CHEBI_46787 | solvent |
| http://purl.obolibrary.org/obo/CHEBI_39141 | Bronsted acid |
| http://purl.obolibrary.org/obo/CHEBI_17891 | donor |
| http://purl.obolibrary.org/obo/CHEBI_37527 | acid |
| HP:0410350 | Increased urinary fucosylated oligosaccharide |
| HP:0410353 | Decreased complex N-glycan level |
| HP:0005652 | Cortical sclerosis |
| HP:0410352 | Increased complex N-glycan level |
| HP:0410351 | Abnormal complex N-glycan level |
| HP:0410359 | Abnormal core 1 O-glycan level |
| HP:0410358 | Decreased high-mannose N-glycan level |
| HP:0005659 | Thoracic kyphoscoliosis |
| HP:0002943 | Thoracic scoliosis |
| http://purl.obolibrary.org/obo/CHEBI_61336 | C4-dicarboxylate |
| HP:0005653 | Moderate generalized osteoporosis |
| HP:0410355 | Decreased sialylated N-glycan level |
| HP:0410354 | Increased sialylated N-glycan level |
| HP:0012349 | Abnormal sialylation of N-linked protein glycosylation |
| HP:0005655 | Multiple digital exostoses |
| HP:0002762 | Multiple exostoses |
| HP:0410357 | Increased high-mannose N-glycan level |
| HP:0410356 | Abnormal high-mannose N-glycan level |
| http://purl.obolibrary.org/obo/CHEBI_48376 | carbamimidic acid |
| http://purl.obolibrary.org/obo/CHEBI_64708 | one-carbon compound |
| http://purl.obolibrary.org/obo/CHEBI_48379 | isourea |
| http://purl.obolibrary.org/obo/CHEBI_48378 | carboximidic acid |
| http://purl.obolibrary.org/obo/CHEBI_48377 | imidic acid |
| HP:0005661 | Salmonella osteomyelitis |
| HP:0410383 | Abnormal proportion of effector memory CD8-positive, alpha-beta T cells |
| HP:0003001 | Glomus jugular tumor |
| HP:0002864 | Paraganglioma of head and neck |
| HP:0002668 | Paraganglioma |
| HP:0100634 | Neuroendocrine neoplasm |
| http://purl.obolibrary.org/obo/GO_0071971 | extracellular exosome assembly |
| http://purl.obolibrary.org/obo/GO_0016050 | vesicle organization |
| http://purl.obolibrary.org/obo/GO_0070925 | organelle assembly |
| HP:0410381 | Abnormal proportion of central memory CD4-positive, alpha-beta T cells |
| HP:0003006 | Neuroblastoma |
| HP:0030067 | Peripheral primitive neuroectodermal neoplasm |
| HP:0030065 | Primitive neuroectodermal tumor |
| HP:0004376 | Neuroblastic tumor |
| HP:0100836 | Malignant neoplasm of the central nervous system |
| HP:0003009 | Enhanced neurotoxicity of vincristine |
| HP:0410388 | Decreased proportion of central memory CD4-positive, alpha-beta T cells |
| HP:0410386 | Decreased proportion of CD4-positive, alpha-beta memory T cells |
| HP:0003003 | Colon cancer |
| HP:0005665 | Massively thickened long bone cortices |
| HP:0003002 | Breast carcinoma |
| HP:0100013 | Neoplasm of the breast |
| HP:0003005 | Ganglioneuroma |
| HP:0030450 | Neuroplasm of the autonomic nervous system |
| HP:0100007 | Neoplasm of the peripheral nervous system |
| HP:0410389 | Decreased proportion of central memory CD8-positive, alpha-beta T cells |
| HP:0410385 | Decreased proportion of CD8-positive, alpha-beta memory T cells |
| HP:0032183 | Decreased proportion of memory T cells |
| HP:0410384 | Abnormal proportion of central memory CD8-positive, alpha-beta T cells |
| HP:0410380 | Abnormal proportion of CD8-positive, alpha-beta memory T cells |
| HP:0005671 | Bilateral intracranial calcifications |
| HP:0410373 | Abnormal proportion of naive CD4 T cells |
| HP:0003010 | Prolonged bleeding time |
| HP:0410372 | Increased Tn-antigen level |
| HP:0410375 | Increased proportion of naive CD4 T cells |
| HP:0410374 | Abnormal proportion of naive CD8 T cells |
| HP:0410371 | Increased hepatitis C virus antibody level |
| HP:0410370 | Absence of ganglioside GM3 |
| HP:0005679 | Dupuytren contracture |
| HP:0410377 | Decreased proportion of naive CD8 T cells |
| HP:0005676 | Rudimentary postaxial polydactyly of hands |
| HP:0410376 | Increeased proportion of naive CD8 T cells |
| HP:0031398 | Increased proportion of naive T cells |
| HP:0003013 | Bulging epiphyses |
| HP:0410379 | Abnormal proportion of CD4-positive, alpha-beta memory T cells |
| HP:0032182 | Abnormal proportion of memory T cells |
| http://purl.obolibrary.org/obo/CHEBI_61355 | 3-hydroxy carboxylic acid |
| HP:0005678 | Anterior atlanto-occipital dislocation |
| HP:0410378 | Decreased proportion of naive CD4 T cells |
| HP:0031397 | Decreased proportion of naive T cells |
| HP:0031396 | Abnormal proportion of naive T cells |
| HP:0025540 | Abnormal T cell subset distribution |
| HP:0011839 | Abnormal T cell count |
| HP:0002843 | Abnormal T cell morphology |
| HP:0003015 | Flared metaphysis |
| HP:0003016 | Metaphyseal widening |
| HP:0005606 | Hyperpigmented nevi and streak |
| http://purl.obolibrary.org/obo/GO_0044364 | disruption of cells of other organism |
| http://purl.obolibrary.org/obo/GO_0035821 | modulation of process of other organism |
| http://purl.obolibrary.org/obo/GO_0044419 | interspecies interaction between organisms |
| HP:0410329 | Gluten allergy |
| HP:0005608 | Bilobate gallbladder |
| HP:0012437 | Abnormal gallbladder morphology |
| HP:0005609 | Gallbladder dysfunction |
| HP:0012438 | Abnormal gallbladder physiology |
| HP:0005264 | Abnormality of the gallbladder |
| http://purl.obolibrary.org/obo/CHEBI_61360 | globoside |
| HP:0030628 | Foveal subretinal hyporeflective spaces on macular OCT |
| HP:0410326 | Feather allergy |
| HP:0030624 | Subretinal hyporeflective spaces on macular OCT |
| HP:0005602 | Progressive vitiligo |
| HP:0001045 | Vitiligo |
| HP:0005603 | Numerous congenital melanocytic nevi |
| HP:0410325 | House dust mite allergy |
| HP:0030626 | Foveal intraretinal hyporeflective spaces on macular OCT |
| HP:0410328 | Egg allergy |
| HP:0030627 | Foveal hyporeflective spaces on macular OCT |
| HP:0410327 | Dairy allergy |
| HP:0005605 | Large cafe-au-lait macules with irregular margins |
| HP:0001034 | Hypermelanotic macule |
| HP:0007400 | Irregular hyperpigmentation |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0410322 | Bacteria allergy |
| HP:0030620 | Inner retinal layer loss on macular OCT |
| HP:0030621 | Foveal inner retinal layer loss on macular OCT |
| HP:0410321 | Animal dander allergy |
| HP:0410320 | Animal protein allergy |
| HP:0030622 | Abnormal foveal pit on macular OCT |
| HP:0410324 | Dust mite allergy |
| HP:0005600 | Congenital giant melanocytic nevus |
| HP:0000995 | Melanocytic nevus |
| HP:0003764 | Nevus |
| HP:0030623 | Intraretinal hyporeflective spaces on macular OCT |
| HP:0030625 | Hyporeflective spaces on macular OCT |
| HP:0410323 | Drug allergy |
| http://purl.obolibrary.org/obo/UBERON_0015593 | frontal gyrus |
| http://purl.obolibrary.org/obo/UBERON_0000200 | gyrus |
| HP:0005617 | Bilateral camptodactyly |
| HP:0410319 | Alpha-gal allergy |
| HP:0410318 | Decreased urinary 3-methylhistidine |
| HP:0030618 | Increased OCT-measured foveal thickness |
| HP:0030619 | Reduced OCT-measured foveal thickness |
| HP:0030617 | Abnormal OCT-measured foveal thickness |
| HP:0410315 | Increased urinary 1-methylhistidine |
| HP:0410314 | Decreased urinary 1-methylhistidine |
| HP:0030614 | Foveal photoreceptor layer loss on macular OCT |
| HP:0030615 | Foveal photoreceptor outer segment loss on macular OCT |
| HP:0410317 | Increased urinary 3-methylhistidine |
| HP:0030616 | Foveal retinal pigment epithelial loss on macular OCT |
| HP:0030613 | Abnormal foveal morphology on macular OCT |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0410316 | Abnormal urinary 3-methylhistidine concentration |
| HP:0410311 | Hyposegmentation of neutrophil nuclei in CSF |
| HP:0030610 | Photoreceptor outer segment loss on macular OCT |
| HP:0410313 | Abnormal urinary 1-methylhistidine concentration |
| HP:0030611 | Retinal pigment epithelial loss on macular OCT |
| HP:0005612 | Arthrogryposis-like hand anomaly |
| HP:0410312 | Hypersegmentation of neutrophil nuclei in CSF |
| HP:0410310 | Abnormality of neutrophil morphology in CSF |
| http://purl.obolibrary.org/obo/GO_0140112 | extracellular vesicle biogenesis |
| http://purl.obolibrary.org/obo/GO_0044085 | cellular component biogenesis |
| HP:0410340 | Focal epithelial hyperplasia of oral mucosa |
| HP:0410342 | Increased circulating heparan sulfate level |
| HP:0030607 | Reduced OCT-measured macular thickness |
| HP:0030608 | Increased OCT-measured macular thickness |
| HP:0030606 | Abnormal OCT-measured macular thickness |
| HP:0030609 | Photoreceptor layer loss on macular OCT |
| HP:0030612 | Abnormal retinal morphology on macular OCT |
| HP:0410348 | Increased urinary multiantennary sialylated oligosaccharide |
| HP:0030603 | Abnormal optical coherence tomography |
| HP:0410347 | Increased urinary high-mannose-type oligosaccharide |
| HP:0005625 | Osteoporosis of vertebrae |
| HP:0005626 | Posterior fusion of lumbosacral vertebrae |
| HP:0030604 | Abnormal fundus fluorescein angiography |
| HP:0005627 | Type D brachydactyly |
| HP:0030605 | Abnormal indocyanine green angiography |
| HP:0410349 | Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level |
| HP:0005620 | Hypermobility of interphalangeal joints |
| HP:0410344 | Shortened O-fucosylated glycan on properdin |
| HP:0012359 | Abnormal fucosylation of O-linked protein glycosylation |
| HP:0012358 | Abnormal protein O-linked glycosylation |
| HP:0410343 | Decreased circulating heparan sulfate level |
| HP:0410341 | Abnormal circulating heparan sulfate level |
| HP:0005621 | Trapezoidal shaped vertebral bodies |
| HP:0005622 | Broad long bones |
| HP:0410346 | Increased urinary galactosylated oligosaccharide |
| HP:0005623 | Absent ossification of calvaria |
| HP:0005474 | Decreased calvarial ossification |
| HP:0004331 | Decreased skull ossification |
| HP:0002703 | Abnormality of skull ossification |
| HP:0410345 | Increased urinary polyhexose |
| HP:0010471 | Oligosacchariduria |
| HP:0410331 | Nut food product allergy |
| HP:0410330 | Meat allergen allergy |
| HP:0410337 | Parasite allergy |
| HP:0410336 | Venom allergy |
| HP:0410339 | Insect bite allergy |
| HP:0005638 | Decreased anterioposterior diameter of lumbar vertebral bodies |
| HP:0008473 | Narrow anterio-posterior vertebral body diameter |
| HP:0008479 | Hypoplastic vertebral bodies |
| HP:0008417 | Vertebral hypoplasia |
| HP:0008515 | Aplasia/Hypoplasia of the vertebrae |
| HP:0410338 | Plant product allergy |
| http://purl.obolibrary.org/obo/GO_0071944 | cell periphery |
| HP:0410333 | Seafood allergy |
| HP:0005632 | Absent forearm |
| HP:0410332 | Plant based food allergy |
| HP:0500093 | Food allergy |
| HP:0410335 | Insect allergy |
| HP:0410334 | Fungi allergy |
| HP:0030660 | Furcate cord insertion |
| http://purl.obolibrary.org/obo/CHEBI_24329 | glutarate |
| HP:0030661 | Vitreous snowballs |
| HP:0030662 | Vitreous inflammatory cells |
| HP:0030663 | Optically empty vitreous |
| http://purl.obolibrary.org/obo/UBERON_0003565 | hindbrain dura mater |
| HP:0003070 | Elbow ankylosis |
| HP:0031013 | Ankylosis |
| http://purl.obolibrary.org/obo/UBERON_0003568 | neck connective tissue |
| http://purl.obolibrary.org/obo/CHEBI_26986 | threonine |
| http://purl.obolibrary.org/obo/CHEBI_26167 | polar amino acid |
| http://purl.obolibrary.org/obo/CHEBI_38263 | 2-amino-3-hydroxybutanoic acid |
| http://purl.obolibrary.org/obo/CHEBI_36309 | cyclic tetrapyrrole |
| http://purl.obolibrary.org/obo/CHEBI_47882 | cyclic polypyrrole |
| HP:0003065 | Patellar hypoplasia |
| HP:0006498 | Aplasia/Hypoplasia of the patella |
| HP:0003067 | Madelung deformity |
| HP:0003066 | Limited knee extension |
| http://purl.obolibrary.org/obo/UBERON_0003560 | spinal cord arachnoid mater |
| http://purl.obolibrary.org/obo/UBERON_0003562 | midbrain dura mater |
| http://purl.obolibrary.org/obo/UBERON_0003563 | telencephalon dura mater |
| http://purl.obolibrary.org/obo/UBERON_0003564 | diencephalon dura mater |
| http://purl.obolibrary.org/obo/UBERON_0003561 | forebrain dura mater |
| http://purl.obolibrary.org/obo/UBERON_0002092 | brain dura mater |
| http://purl.obolibrary.org/obo/UBERON_0002363 | dura mater |
| HP:0030668 | Periorbital dermoid cyst |
| HP:0001144 | Orbital cyst |
| HP:0000606 | Abnormality of the periorbital region |
| HP:0030664 | Beevor's sign |
| HP:0009023 | Abdominal wall muscle weakness |
| HP:0010991 | Abnormal morphology of the abdominal musculature |
| HP:0030665 | Rubral tremor |
| HP:0001337 | Tremor |
| HP:0003068 | Madelung-like forearm deformities |
| HP:0030667 | Peripheral retinal neovascularization |
| HP:0030666 | Retinal neovascularization |
| HP:0008046 | Abnormal retinal vascular morphology |
| http://purl.obolibrary.org/obo/CHEBI_36300 | tricarboxylic acid dianion |
| http://purl.obolibrary.org/obo/CHEBI_35753 | tricarboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_24318 | glutamine family amino acid |
| http://purl.obolibrary.org/obo/CHEBI_15705 | L-alpha-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_83813 | proteinogenic amino acid |
| HP:0030650 | Focal |
| HP:0030651 | Multifocal |
| HP:0030652 | Vitreous haze |
| HP:0011531 | Vitritis |
| http://purl.obolibrary.org/obo/CHEBI_24319 | EC 6.3.1.2 (glutamate--ammonia ligase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_76823 | EC 6.3.1.* (acid-ammonia/amine ligase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_75600 | EC 6.3.* (C-N bond-forming ligase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_75603 | EC 6.* (ligase) inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_23924 | enzyme inhibitor |
| http://purl.obolibrary.org/obo/CHEBI_35222 | inhibitor |
| http://purl.obolibrary.org/obo/UBERON_0003576 | hip connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003577 | knee connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003569 | leg connective tissue |
| HP:0003081 | Increased urinary potassium |
| HP:0012598 | Abnormal urine potassium concentration |
| http://purl.obolibrary.org/obo/UBERON_0003578 | pedal digit connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003579 | shoulder connective tissue |
| HP:0003080 | Hydroxyprolinuria |
| HP:0003076 | Glycosuria |
| HP:0011016 | Abnormality of urine glucose concentration |
| http://purl.obolibrary.org/obo/CHEBI_38958 | indole alkaloid |
| http://purl.obolibrary.org/obo/CHEBI_22315 | alkaloid |
| HP:0003075 | Hypoproteinemia |
| http://purl.obolibrary.org/obo/UBERON_0003571 | trachea connective tissue |
| HP:0003072 | Hypercalcemia |
| http://purl.obolibrary.org/obo/UBERON_0003572 | chest connective tissue |
| HP:0003074 | Hyperglycemia |
| http://purl.obolibrary.org/obo/UBERON_0003574 | elbow connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003573 | arm connective tissue |
| HP:0003073 | Hypoalbuminemia |
| HP:0012116 | Abnormal albumin level |
| http://purl.obolibrary.org/obo/UBERON_0003575 | wrist connective tissue |
| HP:0030657 | Umbilical cord hematoma |
| HP:0030658 | Marginal umbilical cord insertion |
| HP:0030659 | Velamentous cord insertion |
| HP:0011418 | Abnormal insertion of umbilical cord |
| HP:0030654 | Umbilical cord cyst |
| HP:0003079 | Defective DNA repair after ultraviolet radiation damage |
| HP:0030655 | Umbilical cord knot |
| HP:0030656 | Umbilical vein varix |
| HP:0010881 | Abnormality of the umbilical cord |
| HP:0030640 | Complete congenital stationary night blindness |
| HP:0030641 | Incomplete congenital stationary night blindness |
| HP:0410308 | Decreased specific antibody response to infection |
| HP:0410307 | Positive stool methadone test |
| HP:0410309 | Alpha-aminoadipic aciduria |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis |
| HP:0010585 | Small epiphyses |
| HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis |
| HP:0010577 | Absent epiphyses |
| HP:0003091 | Trophic limb changes |
| HP:0010834 | Trophic changes related to pain |
| HP:0010832 | Abnormality of pain sensation |
| http://purl.obolibrary.org/obo/GO_0032369 | negative regulation of lipid transport |
| http://purl.obolibrary.org/obo/GO_1905953 | negative regulation of lipid localization |
| HP:0003086 | Acromesomelia |
| http://purl.obolibrary.org/obo/GO_0032370 | positive regulation of lipid transport |
| http://purl.obolibrary.org/obo/GO_0032368 | regulation of lipid transport |
| http://purl.obolibrary.org/obo/GO_1905954 | positive regulation of lipid localization |
| http://purl.obolibrary.org/obo/GO_1905952 | regulation of lipid localization |
| http://purl.obolibrary.org/obo/UBERON_0003581 | eyelid connective tissue |
| HP:0003089 | Hamstring contractures |
| http://purl.obolibrary.org/obo/UBERON_0003582 | nasopharynx connective tissue |
| HP:0003088 | Premature osteoarthritis |
| HP:0002758 | Osteoarthritis |
| http://purl.obolibrary.org/obo/UBERON_0003583 | larynx connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003584 | mammary gland connective tissue |
| HP:0003085 | Long fibula |
| HP:0003084 | Fractures of the long bones |
| HP:0002757 | Recurrent fractures |
| HP:0030646 | Peripheral |
| HP:0410304 | Complete or near-complete absence of specific antibody response to meningococcus vaccine |
| HP:0030647 | Paracentral |
| HP:0410303 | Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine |
| HP:0410306 | Partial absence of specific antibody response to meningococcus vaccine |
| HP:0030648 | Midperipheral |
| HP:0030649 | Pericentral |
| HP:0410305 | Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine |
| HP:0030642 | Fundus albipunctatus |
| HP:0012045 | Retinal flecks |
| HP:0410300 | Complete or near-complete absence of specific antibody response to pneumococcus vaccine |
| HP:0030643 | Vitelliform-like retinal lesions |
| HP:0030506 | Yellow/white lesions of the retina |
| HP:0030644 | Blind-spot enlargment |
| HP:0410302 | Decreased specific antibody response to protein-conjugated polysaccharide vaccine |
| HP:0030645 | Central |
| HP:0012836 | Spatial pattern |
| HP:0012830 | Position |
| HP:0012823 | Clinical modifier |
| HP:0410301 | Partial absence of specific antibody response to pneumococcus vaccine |
| HP:0030630 | Irregular central macular autofluorescence |
| http://purl.obolibrary.org/obo/UBERON_0003599 | tail connective tissue |
| http://purl.obolibrary.org/obo/CHEBI_48300 | D-threitol |
| http://purl.obolibrary.org/obo/CHEBI_26981 | threitol |
| http://purl.obolibrary.org/obo/CHEBI_48299 | butane-1,2,3,4-tetrol |
| http://purl.obolibrary.org/obo/CHEBI_33729 | tetritol |
| HP:0003097 | Short femur |
| http://purl.obolibrary.org/obo/UBERON_0003592 | bronchus connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003580 | lower respiratory tract connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003570 | respiratory system connective tissue |
| HP:0003099 | Fibular overgrowth |
| HP:0030639 | Congenital stationary night blindness with abnormal fundus |
| http://purl.obolibrary.org/obo/UBERON_0003594 | pelvis connective tissue |
| HP:0003093 | Limited hip extension |
| http://purl.obolibrary.org/obo/UBERON_0003596 | ankle connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003595 | pes connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003589 | hindlimb connective tissue |
| HP:0003095 | Septic arthritis |
| http://purl.obolibrary.org/obo/UBERON_0003597 | manual digit connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0015791 | digit connective tissue |
| HP:0030635 | Retinal dystrophy with early macular involvement |
| HP:0030636 | Occult macular dystrophy |
| HP:0007754 | Macular dystrophy |
| HP:0030637 | Congenital stationary cone dysfunction |
| HP:0030638 | Congenital stationary night blindness with normal fundus |
| HP:0007642 | Congenital stationary night blindness |
| HP:0000662 | Nyctalopia |
| HP:0000556 | Retinal dystrophy |
| HP:0030631 | Hyperautofluorescent macular lesion |
| HP:0025158 | Hyperautofluorescent retinal lesion |
| HP:0030632 | Hypoautofluorescent macular lesion |
| HP:0025159 | Hypoautofluorescent retinal lesion |
| HP:0030633 | Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence |
| http://purl.obolibrary.org/obo/CHEBI_38975 | methylbenzene |
| http://purl.obolibrary.org/obo/CHEBI_38976 | alkylbenzene |
| http://purl.obolibrary.org/obo/CHEBI_33847 | monocyclic arene |
| http://purl.obolibrary.org/obo/CHEBI_33658 | arene |
| http://purl.obolibrary.org/obo/CHEBI_33663 | cyclic hydrocarbon |
| http://purl.obolibrary.org/obo/CHEBI_22712 | benzenes |
| http://purl.obolibrary.org/obo/CHEBI_33836 | benzenoid aromatic compound |
| http://purl.obolibrary.org/obo/CHEBI_33598 | carbocyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_33597 | homocyclic compound |
| HP:0030634 | Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence |
| HP:0030629 | Perifoveal ring of hyperautofluorescence |
| HP:0030602 | Abnormal fundus autofluorescence imaging |
| HP:0030601 | Abnormal posterior segment imaging |
| http://purl.obolibrary.org/obo/UBERON_0003529 | respiratory system lymphatic vessel endothelium |
| http://purl.obolibrary.org/obo/UBERON_0002042 | lymphatic vessel endothelium |
| http://purl.obolibrary.org/obo/GO_0032387 | negative regulation of intracellular transport |
| http://purl.obolibrary.org/obo/GO_0051051 | negative regulation of transport |
| http://purl.obolibrary.org/obo/CHEBI_73336 | vulnerary |
| http://purl.obolibrary.org/obo/UBERON_0003522 | manual digit blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003523 | manus blood vessel |
| HP:0040018 | Clinodactyly of hallux |
| HP:0010051 | Deviation of the hallux |
| http://purl.obolibrary.org/obo/GO_0032388 | positive regulation of intracellular transport |
| http://purl.obolibrary.org/obo/GO_0032386 | regulation of intracellular transport |
| http://purl.obolibrary.org/obo/GO_0060341 | regulation of cellular localization |
| http://purl.obolibrary.org/obo/GO_0051050 | positive regulation of transport |
| http://purl.obolibrary.org/obo/GO_0051049 | regulation of transport |
| HP:0040016 | Prominent coccyx |
| http://purl.obolibrary.org/obo/UBERON_0003526 | respiratory system capillary |
| HP:0040017 | Protruding coccyx |
| HP:0008519 | Abnormality of the coccyx |
| http://purl.obolibrary.org/obo/UBERON_0003527 | kidney capillary |
| HP:0040014 | Increased mitochondrial number |
| http://purl.obolibrary.org/obo/UBERON_0003528 | brain gray matter |
| http://purl.obolibrary.org/obo/UBERON_0002020 | gray matter |
| HP:0040015 | Increased activity of mitochondrial respiratory chain |
| HP:0011922 | Abnormal activity of mitochondrial respiratory chain |
| HP:0003021 | Metaphyseal cupping |
| HP:0005682 | Talocalcaneal synostosis |
| HP:0003020 | Enlargement of the wrists |
| HP:0040013 | Decreased mitochondrial number |
| HP:0012102 | Abnormal mitochondrial number |
| HP:0003023 | Bowing of limbs due to multiple fractures |
| HP:0005684 | Distal arthrogryposis |
| HP:0003022 | Hypoplasia of the ulna |
| HP:0006495 | Aplasia/Hypoplasia of the ulna |
| HP:0005680 | Tongue-like lumbar vertebral deformities |
| HP:0008430 | Anterior beaking of lumbar vertebrae |
| HP:0004568 | Beaking of vertebral bodies |
| HP:0005681 | Juvenile rheumatoid arthritis |
| HP:0001370 | Rheumatoid arthritis |
| HP:0003029 | Enlargement of the ankles |
| http://purl.obolibrary.org/obo/CHEBI_36347 | nuclear particle |
| HP:0005686 | Patchy osteosclerosis |
| HP:0010658 | Patchy changes of bone mineral density |
| HP:0005687 | Deformed humeral heads |
| HP:0003887 | Abnormality of the humeral heads |
| HP:0010598 | Abnormality of the proximal humeral epiphysis |
| HP:0003891 | Abnormality of the humeral epiphysis |
| HP:0003871 | Deformed humerus |
| HP:0031095 | Abnormal humerus morphology |
| HP:0005688 | Dysplastic distal thumb phalanges with a central hole |
| HP:0003027 | Mesomelia |
| HP:0005689 | Dermatoglyphic ridges abnormal |
| HP:0030694 | Pineal parenchymal cell neoplasm |
| HP:0010799 | Pinealoma |
| HP:0030063 | Neuroepithelial neoplasm |
| HP:0030061 | Neuroectodermal neoplasm |
| HP:0030060 | Nervous tissue neoplasm |
| HP:0030693 | Supratentorial neoplasm |
| HP:0030690 | Gingival cleft |
| HP:0030691 | Divergence nystagmus |
| HP:0000639 | Nystagmus |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0007670 | Abnormal vestibulo-ocular reflex |
| HP:0001751 | Vestibular dysfunction |
| HP:0030692 | Brain neoplasm |
| HP:0100006 | Neoplasm of the central nervous system |
| HP:0004375 | Neoplasm of the nervous system |
| http://purl.obolibrary.org/obo/UBERON_0003533 | manual digit skin |
| http://purl.obolibrary.org/obo/UBERON_0001519 | skin of manus |
| http://purl.obolibrary.org/obo/UBERON_0003534 | tail skin |
| http://purl.obolibrary.org/obo/UBERON_0003535 | vagus X nerve trunk |
| http://purl.obolibrary.org/obo/UBERON_0002464 | nerve trunk |
| HP:0040025 | Clinodactyly of the 4th finger |
| HP:0009273 | Deviation of the 4th finger |
| HP:0004188 | Abnormal 4th finger morphology |
| HP:0040023 | Clinodactyly of the thumb |
| HP:0005694 | Partial fusion of proximal row of carpal bones |
| HP:0009702 | Carpal synostosis |
| HP:0003031 | Ulnar bowing |
| HP:0040024 | Clinodactyly of the 3rd finger |
| HP:0009317 | Deviation of the 3rd finger |
| HP:0004150 | Abnormal 3rd finger morphology |
| HP:0040021 | Radial deviation of the thumb |
| HP:0009603 | Deviation of the thumb |
| HP:0003034 | Diaphyseal sclerosis |
| HP:0006392 | Increased density of long bones |
| HP:0005696 | Postaxial polydactyly type A |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0001161 | Hand polydactyly |
| HP:0009997 | Duplication of phalanx of hand |
| HP:0004275 | Duplication of hand bones |
| HP:0009142 | Duplication of bones involving the upper extremities |
| HP:0040022 | Clinodactyly of the 2nd finger |
| HP:0009468 | Deviation of the 2nd finger |
| HP:0004100 | Abnormal 2nd finger morphology |
| http://purl.obolibrary.org/obo/CHEBI_36338 | lepton |
| http://purl.obolibrary.org/obo/CHEBI_33233 | fundamental particle |
| http://purl.obolibrary.org/obo/CHEBI_36339 | baryon |
| http://purl.obolibrary.org/obo/CHEBI_36340 | fermion |
| http://purl.obolibrary.org/obo/CHEBI_36344 | hadron |
| http://purl.obolibrary.org/obo/CHEBI_36343 | composite particle |
| http://purl.obolibrary.org/obo/CHEBI_36342 | subatomic particle |
| HP:0040020 | Radial deviation of the 5th finger |
| HP:0009466 | Radial deviation of finger |
| HP:0009485 | Radial deviation of the hand or of fingers of the hand |
| http://purl.obolibrary.org/obo/UBERON_0003530 | pedal digit skin |
| http://purl.obolibrary.org/obo/UBERON_0001513 | skin of pes |
| http://purl.obolibrary.org/obo/UBERON_0003532 | hindlimb skin |
| HP:0005692 | Joint hyperflexibility |
| HP:0003038 | Fibular hypoplasia |
| HP:0006492 | Aplasia/Hypoplasia of the fibula |
| HP:0030682 | Left ventricular noncompaction |
| HP:0031192 | Abnormal morphology of left ventricular trabeculae |
| HP:0030683 | Vaginitis |
| HP:0030685 | Decreased adiponectin level |
| HP:0030681 | Abnormal morphology of myocardial trabeculae |
| http://purl.obolibrary.org/obo/UBERON_0003544 | brain white matter |
| http://purl.obolibrary.org/obo/UBERON_0002316 | white matter |
| http://purl.obolibrary.org/obo/CHEBI_24384 | glycogens |
| http://purl.obolibrary.org/obo/CHEBI_37163 | glucan |
| http://purl.obolibrary.org/obo/CHEBI_37164 | homopolysaccharide |
| http://purl.obolibrary.org/obo/CHEBI_18154 | polysaccharide |
| HP:0003045 | Abnormal patella morphology |
| HP:0003044 | Shoulder flexion contracture |
| http://purl.obolibrary.org/obo/UBERON_0003540 | right lung terminal bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0003538 | right lung bronchiole |
| HP:0003041 | Humeroradial synostosis |
| HP:0003938 | Synostosis involving the elbow |
| http://purl.obolibrary.org/obo/UBERON_0003541 | left lung terminal bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0002187 | terminal bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0003539 | left lung bronchiole |
| http://purl.obolibrary.org/obo/UBERON_0002186 | bronchiole |
| http://purl.obolibrary.org/obo/CHEBI_142163 | 24G7 epitope |
| HP:0030686 | Increased adiponectin level |
| HP:0030684 | Abnormal adiponectin level |
| HP:0030688 | Increased glucagon level |
| HP:0003049 | Ulnar deviation of the wrist |
| HP:0030689 | Decreased glucagon level |
| HP:0030687 | Abnormal glucagon level |
| HP:0030671 | Abnormal common tendinous ring morphology |
| HP:0030672 | Asteroid hyalosis |
| HP:0030673 | Erosive vitreoretinopathy |
| HP:0007773 | Vitreoretinopathy |
| HP:0030674 | Antenatal onset |
| HP:0030670 | Hamartoma of the orbital region |
| http://purl.obolibrary.org/obo/UBERON_0003554 | hindbrain pia mater |
| HP:0040009 | Hyperparakeratosis |
| HP:0001036 | Parakeratosis |
| http://purl.obolibrary.org/obo/UBERON_0003555 | spinal cord pia mater |
| HP:0040007 | Absent pigmentation of chest |
| HP:0200098 | Absent skin pigmentation |
| http://purl.obolibrary.org/obo/UBERON_0003557 | midbrain arachnoid mater |
| HP:0040008 | Aplasia of facial bones |
| http://purl.obolibrary.org/obo/CHEBI_24373 | glycine derivative |
| http://purl.obolibrary.org/obo/UBERON_0003558 | diencephalon arachnoid mater |
| http://purl.obolibrary.org/obo/UBERON_0003556 | forebrain arachnoid mater |
| http://purl.obolibrary.org/obo/UBERON_0003559 | hindbrain arachnoid mater |
| http://purl.obolibrary.org/obo/UBERON_0002362 | arachnoid mater |
| HP:0040006 | Mortality/Aging |
| HP:0040004 | Abnormality of corneal shape |
| HP:0000481 | Abnormal cornea morphology |
| HP:0003053 | Epiphyseal deformities of tubular bones |
| http://purl.obolibrary.org/obo/UBERON_0003551 | midbrain pia mater |
| http://purl.obolibrary.org/obo/UBERON_0003552 | telencephalon pia mater |
| HP:0003051 | Enlarged metaphyses |
| http://purl.obolibrary.org/obo/UBERON_0003553 | diencephalon pia mater |
| http://purl.obolibrary.org/obo/UBERON_0003550 | forebrain pia mater |
| http://purl.obolibrary.org/obo/UBERON_0003549 | brain pia mater |
| http://purl.obolibrary.org/obo/UBERON_0002361 | pia mater |
| http://purl.obolibrary.org/obo/UBERON_0000391 | leptomeninx |
| HP:0030679 | Ash-leaf spot |
| HP:0009719 | Hypomelanotic macule |
| HP:0020073 | Hypopigmented macule |
| HP:0012733 | Macule |
| HP:0001010 | Hypopigmentation of the skin |
| HP:0001000 | Abnormality of skin pigmentation |
| http://purl.obolibrary.org/obo/CHEBI_61313 | C21-steroid |
| HP:0030675 | Contracture of proximal interphalangeal joints of 2nd-5th fingers |
| HP:0001215 | Camptodactyly of 2nd-5th fingers |
| HP:0003057 | Tetraamelia |
| HP:0009827 | Amelia |
| HP:0030676 | Satyr ear |
| HP:0030677 | Mozart ear |
| http://purl.obolibrary.org/obo/CHEBI_26907 | tetrahydrofolic acid |
| http://purl.obolibrary.org/obo/CHEBI_37445 | folic acids |
| http://purl.obolibrary.org/obo/CHEBI_83982 | L-glutamic acid derivative |
| http://purl.obolibrary.org/obo/CHEBI_83811 | proteinogenic amino acid derivative |
| http://purl.obolibrary.org/obo/CHEBI_24315 | glutamic acid derivative |
| http://purl.obolibrary.org/obo/CHEBI_26375 | pterins |
| http://purl.obolibrary.org/obo/CHEBI_26373 | pteridines |
| http://purl.obolibrary.org/obo/GO_0009991 | response to extracellular stimulus |
| http://purl.obolibrary.org/obo/GO_0009605 | response to external stimulus |
| http://purl.obolibrary.org/obo/GO_0007338 | single fertilization |
| http://purl.obolibrary.org/obo/GO_0009566 | fertilization |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9454 | PROM1 (human) |
| http://purl.obolibrary.org/obo/GO_0010960 | magnesium ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0055065 | metal ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0072507 | divalent inorganic cation homeostasis |
| http://purl.obolibrary.org/obo/GO_0098771 | inorganic ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0007320 | insemination |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9445 | PRL (human) |
| http://purl.obolibrary.org/obo/UBERON_0003507 | arm blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003508 | pedal digit blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003521 | pes blood vessel |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11935 | CD40LG (human) |
| http://purl.obolibrary.org/obo/UBERON_0003500 | corneal blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003501 | retina blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003503 | leg blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003505 | trachea blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003506 | chest blood vessel |
| HP:0030594 | Abnormal automated kinetic perimetry test |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11922 | CD27 (human) |
| HP:0030596 | Abnormal Humphrey SITA 30-2 perimetry test |
| HP:0030597 | Abnormal Humphrey SITA 24-2 perimetry test |
| http://purl.obolibrary.org/obo/GO_0019319 | hexose biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0046364 | monosaccharide biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0016051 | carbohydrate biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0019318 | hexose metabolic process |
| HP:0030590 | Abnormal Amsler grid test |
| HP:0030593 | Abnormal manual kinetic perimetry test |
| HP:0030591 | Abnormal kinetic perimetry test |
| http://purl.obolibrary.org/obo/UBERON_0003510 | eyelid blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003511 | iris blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003512 | lung blood vessel |
| http://purl.obolibrary.org/obo/PR_P04040 | catalase (human) |
| http://purl.obolibrary.org/obo/UBERON_0003515 | forelimb blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0007300 | pectoral appendage blood vessel |
| http://purl.obolibrary.org/obo/GO_0007346 | regulation of mitotic cell cycle |
| http://purl.obolibrary.org/obo/UBERON_0003516 | hindlimb blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003514 | limb blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0007301 | appendage blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003517 | kidney blood vessel |
| HP:0030598 | Abnormal Humphrey SITA 10-2 perimetry test |
| HP:0030599 | Abnormal Estermann grid perimetry test |
| HP:0030595 | Abnormal static automated perimetry test |
| HP:0030592 | Abnormal static perimetry test |
| HP:0030588 | Abnormal visual field test |
| HP:0001123 | Visual field defect |
| HP:0000505 | Visual impairment |
| http://purl.obolibrary.org/obo/PR_000048517 | PR:000048517 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P13591 | neural cell adhesion molecule 1 (human) |
| http://purl.obolibrary.org/obo/PR_000018325 | neural cell adhesion molecule 1, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001024 | neural cell adhesion molecule 1 |
| http://purl.obolibrary.org/obo/PR_000001023 | neural cell adhesion molecule NCAM |
| http://purl.obolibrary.org/obo/PR_000001022 | neural cell adhesion molecule |
| http://purl.obolibrary.org/obo/GO_0007399 | nervous system development |
| http://purl.obolibrary.org/obo/GO_0048731 | system development |
| http://purl.obolibrary.org/obo/GO_0007389 | pattern specification process |
| http://purl.obolibrary.org/obo/PR_P16070 | CD44 antigen (human) |
| http://purl.obolibrary.org/obo/PR_000001307 | CD44 molecule |
| http://purl.obolibrary.org/obo/GO_0044307 | dendritic branch |
| http://purl.obolibrary.org/obo/GO_0030425 | dendrite |
| http://purl.obolibrary.org/obo/GO_0043005 | neuron projection |
| http://purl.obolibrary.org/obo/GO_0120025 | plasma membrane bounded cell projection |
| http://purl.obolibrary.org/obo/GO_0042995 | cell projection |
| http://purl.obolibrary.org/obo/GO_0010912 | positive regulation of isomerase activity |
| http://purl.obolibrary.org/obo/GO_0010911 | regulation of isomerase activity |
| http://purl.obolibrary.org/obo/GO_0046951 | ketone body biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1902224 | ketone body metabolic process |
| http://purl.obolibrary.org/obo/GO_0006091 | generation of precursor metabolites and energy |
| http://purl.obolibrary.org/obo/GO_1901570 | fatty acid derivative biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1901568 | fatty acid derivative metabolic process |
| http://purl.obolibrary.org/obo/GO_0044283 | small molecule biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0046950 | cellular ketone body metabolic process |
| http://purl.obolibrary.org/obo/GO_0010907 | positive regulation of glucose metabolic process |
| http://purl.obolibrary.org/obo/GO_0062013 | positive regulation of small molecule metabolic process |
| http://purl.obolibrary.org/obo/GO_0010676 | positive regulation of cellular carbohydrate metabolic process |
| http://purl.obolibrary.org/obo/GO_0045913 | positive regulation of carbohydrate metabolic process |
| http://purl.obolibrary.org/obo/GO_0010906 | regulation of glucose metabolic process |
| http://purl.obolibrary.org/obo/GO_0062012 | regulation of small molecule metabolic process |
| http://purl.obolibrary.org/obo/GO_0010675 | regulation of cellular carbohydrate metabolic process |
| http://purl.obolibrary.org/obo/PR_Q02548 | PR:Q02548 located_in GO:0005654 |
| http://purl.obolibrary.org/obo/PR_000001903 | paired box protein PAX-5 |
| http://purl.obolibrary.org/obo/PR_P04053 | DNA nucleotidylexotransferase (human) |
| http://purl.obolibrary.org/obo/PR_000006611 | DNA nucleotidylexotransferase |
| HP:0410290 | Positive urine norpropoxyphene test |
| HP:0031840 | Urine xenobiotic |
| HP:0410285 | Positive meconium methadone test |
| HP:0500098 | Meconium xenobiotic |
| HP:0500097 | Stool xenobiotic |
| HP:0410284 | Positive norpropoxyphene blood test |
| http://purl.obolibrary.org/obo/GO_0046939 | nucleotide phosphorylation |
| http://purl.obolibrary.org/obo/GO_0016310 | phosphorylation |
| HP:0410287 | Intrathoracic hemangioma |
| HP:0410286 | Positive blood molindone test |
| HP:0410281 | Dyspepsia |
| HP:0002027 | Abdominal pain |
| HP:0410280 | Pediatric onset |
| HP:0003674 | Onset |
| HP:0031797 | Clinical course |
| HP:0410283 | Positive blood acetaminophen test |
| HP:0410172 | Blood xenobiotic |
| HP:0031838 | Presence of xenobiotic |
| HP:0410289 | Hypoamylasemia |
| HP:0410288 | Hyperamylasemia |
| HP:0410282 | Abnormal circulating amylase level |
| http://purl.obolibrary.org/obo/CHEBI_3424 | carnitinium |
| http://purl.obolibrary.org/obo/CHEBI_35267 | quaternary ammonium ion |
| http://purl.obolibrary.org/obo/GO_0010927 | cellular component assembly involved in morphogenesis |
| http://purl.obolibrary.org/obo/GO_0048646 | anatomical structure formation involved in morphogenesis |
| http://purl.obolibrary.org/obo/GO_0010922 | positive regulation of phosphatase activity |
| http://purl.obolibrary.org/obo/GO_0035306 | positive regulation of dephosphorylation |
| http://purl.obolibrary.org/obo/GO_0045937 | positive regulation of phosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0010562 | positive regulation of phosphorus metabolic process |
| http://purl.obolibrary.org/obo/GO_0031325 | positive regulation of cellular metabolic process |
| http://purl.obolibrary.org/obo/GO_0051345 | positive regulation of hydrolase activity |
| http://purl.obolibrary.org/obo/GO_0010923 | negative regulation of phosphatase activity |
| http://purl.obolibrary.org/obo/GO_0010921 | regulation of phosphatase activity |
| http://purl.obolibrary.org/obo/GO_0035305 | negative regulation of dephosphorylation |
| http://purl.obolibrary.org/obo/GO_0035303 | regulation of dephosphorylation |
| http://purl.obolibrary.org/obo/GO_0045936 | negative regulation of phosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0019220 | regulation of phosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0010563 | negative regulation of phosphorus metabolic process |
| http://purl.obolibrary.org/obo/GO_0051174 | regulation of phosphorus metabolic process |
| http://purl.obolibrary.org/obo/GO_0051346 | negative regulation of hydrolase activity |
| http://purl.obolibrary.org/obo/GO_0051336 | regulation of hydrolase activity |
| HP:0410274 | Paraspinal hemangioma |
| HP:0410273 | Retropharyngeal hemangioma |
| HP:0410276 | Supraumbilical raphe |
| HP:0410275 | Lumbosacral hemangioma |
| HP:0410270 | Esophageal hemangioma |
| HP:0410272 | Vulvar hemangioma |
| HP:0410271 | Laryngeal hemangioma |
| HP:0410278 | Pituitary gland cyst |
| HP:0010576 | Intracranial cystic lesion |
| HP:0410277 | Sternal pit |
| HP:0000766 | Abnormality of the sternum |
| HP:0410279 | Atrophic pituitary gland |
| HP:0012506 | Small pituitary gland |
| HP:0012504 | Abnormal size of pituitary gland |
| http://purl.obolibrary.org/obo/GO_0009968 | negative regulation of signal transduction |
| http://purl.obolibrary.org/obo/GO_0010648 | negative regulation of cell communication |
| http://purl.obolibrary.org/obo/GO_0023057 | negative regulation of signaling |
| http://purl.obolibrary.org/obo/GO_0010940 | positive regulation of necrotic cell death |
| http://purl.obolibrary.org/obo/GO_0010942 | positive regulation of cell death |
| http://purl.obolibrary.org/obo/GO_0010939 | regulation of necrotic cell death |
| http://purl.obolibrary.org/obo/GO_0010941 | regulation of cell death |
| http://purl.obolibrary.org/obo/GO_0010948 | negative regulation of cell cycle process |
| http://purl.obolibrary.org/obo/GO_0045786 | negative regulation of cell cycle |
| http://purl.obolibrary.org/obo/GO_0010564 | regulation of cell cycle process |
| http://purl.obolibrary.org/obo/GO_0051726 | regulation of cell cycle |
| http://purl.obolibrary.org/obo/GO_0009967 | positive regulation of signal transduction |
| http://purl.obolibrary.org/obo/GO_0009966 | regulation of signal transduction |
| http://purl.obolibrary.org/obo/GO_0010647 | positive regulation of cell communication |
| http://purl.obolibrary.org/obo/GO_0010646 | regulation of cell communication |
| http://purl.obolibrary.org/obo/GO_0023056 | positive regulation of signaling |
| http://purl.obolibrary.org/obo/GO_0023051 | regulation of signaling |
| HP:0410296 | Complete or near-complete absence of specific antibody response to hepatitis B vaccine |
| HP:0410295 | Complete or near-complete absence of specific antibody response to tetanus vaccine |
| HP:0410298 | Partial absence of specific antibody response to hepatitis B vaccine |
| HP:0410297 | Partial absence of specific antibody response to tetanus vaccine |
| HP:0410291 | Negativism |
| HP:0410294 | Decreased specific antibody response to protein vaccine |
| HP:0410293 | Absent isohemagglutinin level |
| HP:0410292 | Abnormal isohemagglutinin level |
| HP:0410299 | Decreased specific antibody response to polysaccharide vaccine |
| HP:0032140 | Decreased specific antibody response to vaccination |
| HP:0012475 | Decreased circulating level of specific antibody |
| HP:0031404 | Impaired antigen-specific response |
| HP:0002721 | Immunodeficiency |
| HP:0030709 | Myelocystocele |
| HP:0410000 | Abnormality of vomer |
| HP:0030706 | Ranula |
| HP:0010286 | Abnormal salivary gland morphology |
| HP:0030707 | Unilateral lung agenesis |
| HP:0030708 | Myeloschisis |
| HP:0002475 | Myelomeningocele |
| HP:0005767 | 1-2 toe complete cutaneous syndactyly |
| HP:0003106 | Subperiosteal bone resorption |
| HP:0005768 | 2-4 toe cutaneous syndactyly |
| HP:0410006 | Abnormality of ophthalmic artery |
| HP:3000062 | Abnormal internal carotid artery morphology |
| HP:0005344 | Abnormal carotid artery morphology |
| HP:0003105 | Protuberances at ends of long bones |
| HP:0005769 | Fifth finger distal phalanx clinodactyly |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0040019 | Finger clinodactyly |
| HP:0009179 | Deviation of the 5th finger |
| HP:0004097 | Deviation of finger |
| HP:0009484 | Deviation of the hand or of fingers of the hand |
| HP:0004225 | Abnormality of the distal phalanx of the 5th finger |
| HP:0003108 | Hyperglycinuria |
| HP:0003102 | Increased carrying angle |
| HP:0410003 | Cleft maxillary alveolus |
| HP:0010758 | Abnormality of the premaxilla |
| HP:0000326 | Abnormality of the maxilla |
| HP:0005764 | Polyarticular arthritis |
| HP:0005195 | Polyarticular arthropathy |
| HP:0003040 | Arthropathy |
| HP:0005765 | Sacral meningocele |
| HP:0005766 | Disproportionate shortening of the tibia |
| http://purl.obolibrary.org/obo/GO_0042092 | type 2 immune response |
| http://purl.obolibrary.org/obo/GO_0042098 | T cell proliferation |
| HP:0005773 | Short forearm |
| HP:0009821 | Forearm undergrowth |
| HP:0006503 | Aplasia/hypoplasia involving forearm bones |
| http://purl.obolibrary.org/obo/CHEBI_61697 | fatty acid derivative |
| HP:0003116 | Abnormal echocardiogram |
| HP:0003118 | Increased circulating cortisol level |
| HP:0002717 | Adrenal overactivity |
| HP:0011733 | Abnormality of adrenal physiology |
| HP:0000834 | Abnormality of the adrenal glands |
| HP:0410175 | Hyperketonemia |
| http://purl.obolibrary.org/obo/CHEBI_58048 | L-asparagine zwitterion |
| HP:0003113 | Hypochloremia |
| HP:0011422 | Abnormal blood chloride concentration |
| HP:0005775 | Multiple skeletal anomalies |
| HP:0005776 | Carpal bone malsegmentation |
| HP:0001191 | Abnormality of the carpal bones |
| HP:0003019 | Abnormality of the wrist |
| http://purl.obolibrary.org/obo/PR_Q14246 | adhesion G protein-coupled receptor E1 (human) |
| http://purl.obolibrary.org/obo/PR_000001813 | adhesion G protein-coupled receptor E1 |
| http://purl.obolibrary.org/obo/PR_000001087 | adhesion G-protein coupled receptor |
| HP:0005781 | Contractures of the large joints |
| HP:0410021 | Musty odor |
| HP:0410023 | Abnormal distribution of cell junction proteins in buccal mucosal cells |
| HP:0031476 | Abnormal buccal mucosa cell morphology |
| HP:3000019 | Abnormality of buccal mucosa |
| HP:0410022 | Vaginal fish odor |
| HP:0410020 | Fish odor |
| HP:0500001 | Body odor |
| HP:0005780 | Absent fourth finger distal interphalangeal crease |
| HP:0001032 | Absent distal interphalangeal creases |
| HP:0006109 | Absent phalangeal crease |
| HP:0006143 | Abnormal finger flexion creases |
| HP:0003128 | Lactic acidosis |
| HP:0005789 | Generalized osteosclerosis |
| HP:0410028 | Recurrent oral herpes |
| HP:0005353 | Recurrent herpes |
| HP:0004429 | Recurrent viral infections |
| HP:0003127 | Hypocalciuria |
| HP:0011280 | Abnormality of urine calcium concentration |
| HP:0003124 | Hypercholesterolemia |
| HP:0005787 | Lumbar platyspondyly |
| HP:0003126 | Low-molecular-weight proteinuria |
| HP:0000093 | Proteinuria |
| HP:0020129 | Abnormal urine protein level |
| HP:0410027 | Alveolar bone loss around teeth |
| HP:0005788 | Abnormal cervical myelogram |
| HP:0002318 | Cervical myelopathy |
| HP:0002196 | Myelopathy |
| HP:0003125 | Reduced factor VIII activity |
| HP:0410026 | Abnormality of the periodontium |
| http://purl.obolibrary.org/obo/GO_0042073 | intraciliary transport |
| http://purl.obolibrary.org/obo/GO_0031503 | protein-containing complex localization |
| http://purl.obolibrary.org/obo/GO_0098840 | protein transport along microtubule |
| http://purl.obolibrary.org/obo/GO_0099118 | microtubule-based protein transport |
| http://purl.obolibrary.org/obo/GO_0010970 | transport along microtubule |
| http://purl.obolibrary.org/obo/GO_0030705 | cytoskeleton-dependent intracellular transport |
| http://purl.obolibrary.org/obo/GO_0099111 | microtubule-based transport |
| http://purl.obolibrary.org/obo/GO_0007018 | microtubule-based movement |
| http://purl.obolibrary.org/obo/GO_0006928 | movement of cell or subcellular component |
| http://purl.obolibrary.org/obo/GO_0007017 | microtubule-based process |
| HP:0005792 | Short humerus |
| HP:0006507 | Aplasia/hypoplasia of the humerus |
| HP:0003131 | Cystinuria |
| HP:0410010 | Abnormality of somatic nerve plexus |
| HP:0410009 | Abnormality of the somatic nervous system |
| HP:0005793 | Shortening of all distal phalanges of the toes |
| HP:0001857 | Short distal phalanx of toe |
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes |
| HP:0010760 | Absent toe |
| HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes |
| HP:0010182 | Abnormality of the distal phalanges of the toes |
| HP:0005035 | Shortening of all phalanges of the toes |
| HP:0001831 | Short toe |
| HP:0001991 | Aplasia/Hypoplasia of toe |
| HP:0010161 | Abnormality of the phalanges of the toes |
| HP:0003133 | Abnormality of the spinocerebellar tracts |
| HP:0410012 | Abnormal mouth floor morphology |
| HP:0410011 | Abnormality of masticatory muscle |
| HP:0045037 | Abnormality of jaw muscles |
| HP:0000301 | Abnormality of facial musculature |
| HP:0005790 | Short mandibular condyles |
| HP:0003778 | Short mandibular rami |
| HP:0000347 | Micrognathia |
| HP:0009118 | Aplasia/Hypoplasia of the mandible |
| HP:0009116 | Aplasia/Hypoplasia involving bones of the skull |
| HP:0002692 | Hypoplastic facial bones |
| HP:3000003 | Abnormal mandibular ramus morphology |
| HP:3000077 | Abnormal mandible condylar process morphology |
| HP:0005791 | Cortical thickening of long bone diaphyses |
| HP:0000935 | Thickened cortex of long bones |
| HP:0100039 | Thickened cortex of bones |
| HP:0410018 | Recurrent ear infections |
| HP:0003139 | Panhypogammaglobulinemia |
| HP:0003138 | Increased blood urea nitrogen |
| HP:0031970 | Abnormal blood urea nitrogen concentration |
| HP:0410017 | Otitis externa |
| HP:0410019 | Epigastric pain |
| HP:0410013 | Abnormality of the submandibular region |
| HP:0005798 | Posterior radial head dislocation |
| HP:0003137 | Prolinuria |
| HP:0410016 | Abnormality of cranial ganglion |
| HP:0410015 | Abnormality of ganglion of peripheral nervous system |
| HP:0410014 | Abnormality of ganglion |
| http://purl.obolibrary.org/obo/GO_0042060 | wound healing |
| http://purl.obolibrary.org/obo/GO_0009611 | response to wounding |
| http://purl.obolibrary.org/obo/GO_0006950 | response to stress |
| HP:0030740 | Anomalous muscle bundle of the right ventricle |
| HP:0001707 | Abnormal right ventricle morphology |
| http://purl.obolibrary.org/obo/GO_0042065 | glial cell growth |
| http://purl.obolibrary.org/obo/GO_0048588 | developmental cell growth |
| http://purl.obolibrary.org/obo/GO_0048589 | developmental growth |
| http://purl.obolibrary.org/obo/GO_0016049 | cell growth |
| http://purl.obolibrary.org/obo/GO_0040007 | growth |
| http://purl.obolibrary.org/obo/GO_0042063 | gliogenesis |
| http://purl.obolibrary.org/obo/GO_0022008 | neurogenesis |
| http://purl.obolibrary.org/obo/UBERON_0003488 | abdominal mammary gland |
| http://purl.obolibrary.org/obo/UBERON_0001911 | mammary gland |
| http://purl.obolibrary.org/obo/UBERON_0005172 | abdomen element |
| http://purl.obolibrary.org/obo/UBERON_0005173 | abdominal segment element |
| http://purl.obolibrary.org/obo/UBERON_0003489 | respiratory system capillary endothelium |
| http://purl.obolibrary.org/obo/UBERON_0004702 | respiratory system blood vessel endothelium |
| http://purl.obolibrary.org/obo/UBERON_0001915 | endothelium of capillary |
| http://purl.obolibrary.org/obo/UBERON_0003480 | vein of clitoris |
| http://purl.obolibrary.org/obo/UBERON_0003481 | tail vein |
| http://purl.obolibrary.org/obo/UBERON_0003482 | vein of trabecular bone |
| http://purl.obolibrary.org/obo/UBERON_0003483 | thymus lymphoid tissue |
| http://purl.obolibrary.org/obo/UBERON_0001744 | lymphoid tissue |
| http://purl.obolibrary.org/obo/UBERON_0034769 | lymphomyeloid tissue |
| http://purl.obolibrary.org/obo/UBERON_0015757 | heterogeneous tissue |
| HP:0030749 | Grade II preterm intraventricular hemorrhage |
| http://www.informatics.jax.org/marker/MGI:97004 | Mme (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0003484 | eye sebaceous gland |
| http://purl.obolibrary.org/obo/UBERON_0003605 | eye skin gland |
| http://purl.obolibrary.org/obo/UBERON_0004859 | eye gland |
| http://purl.obolibrary.org/obo/UBERON_0003485 | vagina sebaceous gland |
| http://purl.obolibrary.org/obo/UBERON_0005398 | female reproductive gland |
| http://purl.obolibrary.org/obo/UBERON_0003937 | reproductive gland |
| http://purl.obolibrary.org/obo/UBERON_0003487 | skin sebaceous gland |
| HP:0005723 | Shoe-shaped sella turcica |
| HP:0002681 | Deformed sella turcica |
| HP:0030745 | Dilatation of the ductus arteriosus |
| HP:0011603 | Congenital malformation of the great arteries |
| HP:0002617 | Dilatation |
| HP:0005725 | Nonopposable triphalangeal thumb |
| HP:0030748 | Grade I preterm intraventricular hemorrhage |
| HP:0005726 | Thumbs hypoplastic with bulbous tips |
| HP:0009778 | Short thumb |
| HP:0009601 | Aplasia/Hypoplasia of the thumb |
| HP:0030741 | Mediastinal teratoma |
| HP:0005720 | Shortening of all metacarpals |
| HP:0010049 | Short metacarpal |
| HP:0030742 | Glial remnants posterior to lens |
| HP:0030743 | Glial remnants anterior to the optic disc |
| HP:0005722 | Hyperextensible thumb |
| HP:0005639 | Hyperextensible hand joints |
| HP:0001382 | Joint hypermobility |
| HP:0030744 | Hyaloid vascular remnant and retrolental mass |
| HP:0007968 | Remnants of the hyaloid vascular system |
| HP:3000036 | Abnormality of head blood vessel |
| HP:0005739 | Posterior subluxation of radial head |
| HP:0003048 | Radial head subluxation |
| http://purl.obolibrary.org/obo/UBERON_0015474 | axilla skin |
| http://purl.obolibrary.org/obo/UBERON_0015477 | axillary fat pad |
| http://purl.obolibrary.org/obo/UBERON_0015476 | nose skin |
| http://purl.obolibrary.org/obo/UBERON_1000021 | skin of face |
| http://purl.obolibrary.org/obo/UBERON_0001084 | skin of head |
| http://purl.obolibrary.org/obo/UBERON_0012180 | head or neck skin |
| http://purl.obolibrary.org/obo/UBERON_0003499 | brain blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003494 | respiratory system venule |
| http://purl.obolibrary.org/obo/UBERON_0001979 | venule |
| HP:0030738 | Altman type II sacrococcygeal teratoma |
| http://purl.obolibrary.org/obo/UBERON_0003495 | respiratory system arteriole |
| http://purl.obolibrary.org/obo/UBERON_0001980 | arteriole |
| HP:0030739 | Altman type III sacrococcygeal teratoma |
| http://purl.obolibrary.org/obo/UBERON_0003498 | heart blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003834 | thoracic segment blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0015479 | scrotum skin |
| HP:0030735 | Ureterovesical junction obstruction |
| HP:0006000 | Ureteral obstruction |
| HP:0025634 | Abnormal ureter physiology |
| HP:0005736 | Short tibia |
| HP:0005772 | Aplasia/Hypoplasia of the tibia |
| HP:0030737 | Altman type I sacrococcygeal teratoma |
| HP:0030736 | Sacrococcygeal teratoma |
| HP:0030730 | Parietal meningocele |
| HP:0005731 | Cortical irregularity |
| HP:0030731 | Carcinoma |
| HP:0031492 | Epithelial neoplasm |
| HP:0030732 | Dysplastic tricuspid valve |
| HP:0030733 | Vesicoallantoic abdominal wall defect |
| HP:0005733 | Spinal stenosis with reduced interpedicular distance |
| http://purl.obolibrary.org/obo/UBERON_0015482 | right hepatic artery |
| http://purl.obolibrary.org/obo/UBERON_0015481 | left hepatic artery |
| http://purl.obolibrary.org/obo/UBERON_0015796 | liver blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003497 | abdomen blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0001193 | hepatic artery |
| http://purl.obolibrary.org/obo/UBERON_0015485 | choledocho-duodenal junction |
| HP:0030727 | Intracranial neurenteric cyst |
| HP:0030728 | Meromelia |
| HP:0030729 | Frontoethmoidal meningocele |
| HP:0005745 | Congenital foot contractures |
| HP:0030723 | Congenital megalourethra |
| HP:0005746 | Osteosclerosis of the base of the skull |
| HP:0005464 | Craniofacial osteosclerosis |
| HP:0005747 | Easily subluxated first metacarpophalangeal joints |
| HP:0004294 | Subluxation of metacarpal phalangeal joints |
| HP:0030726 | Spinal neurenteric cyst |
| HP:0030725 | Neurenteric cyst |
| HP:0030724 | Central nervous system cyst |
| HP:0030720 | Subchorionic septal cyst |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis |
| HP:0030721 | Tetraphocomelia |
| HP:0009829 | Phocomelia |
| HP:0030722 | Ectopic liver |
| HP:0030716 | Acrania |
| HP:0030717 | Meconium peritonitis |
| HP:0002586 | Peritonitis |
| HP:0045073 | Serositis |
| HP:0030718 | Right atrial enlargement |
| HP:0025580 | Abnormal right atrium morphology |
| HP:0005120 | Abnormal cardiac atrium morphology |
| HP:0030719 | Unguarded tricuspid valve |
| HP:0011662 | Tricuspid atresia |
| HP:0001702 | Abnormal tricuspid valve morphology |
| HP:0006705 | Abnormal atrioventricular valve morphology |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0005756 | Neonatal epiphyseal stippling |
| HP:0010655 | Epiphyseal stippling |
| HP:0010656 | Abnormal epiphyseal ossification |
| HP:0030712 | Uterine synechiae |
| HP:0030713 | Vein of Galen aneurysmal malformation |
| HP:0012480 | Abnormality of cerebral veins |
| HP:0005758 | Basilar impression |
| HP:0030714 | Subchorionic thrombohematoma |
| HP:0005759 | Small flat posterior fossa |
| HP:0040011 | Flat posterior fossa |
| HP:0040010 | Small posterior fossa |
| HP:0000932 | Abnormality of the posterior cranial fossa |
| HP:0030715 | Bronchial atresia |
| HP:0025426 | Abnormal bronchus morphology |
| HP:0005607 | Abnormal tracheobronchial morphology |
| HP:0005752 | Flattened moderately deformed vertebrae |
| HP:0030710 | Lipomeningocele |
| HP:0002435 | Meningocele |
| HP:0010651 | Abnormal meningeal morphology |
| HP:0030711 | Hydrocolpos |
| HP:0030781 | Increased circulating free fatty acid level |
| HP:0030783 | Increased serum interleukin-6 |
| HP:0030782 | Abnormal serum interleukin level |
| HP:0011112 | Abnormality of serum cytokine level |
| HP:0011111 | Abnormality of immune serum protein physiology |
| HP:0030784 | Anomia |
| HP:0002167 | Neurological speech impairment |
| HP:0011446 | Abnormality of higher mental function |
| http://purl.obolibrary.org/obo/UBERON_0015420 | ureteral valve |
| http://purl.obolibrary.org/obo/UBERON_0003978 | valve |
| HP:0030780 | Abnormality of the protein C anticoagulant pathway |
| http://purl.obolibrary.org/obo/UBERON_0003444 | pelvis nerve |
| http://purl.obolibrary.org/obo/CHEBI_24684 | hydroxybutyric acid |
| http://purl.obolibrary.org/obo/UBERON_0003446 | ankle nerve |
| HP:0003191 | Cleft ala nasi |
| HP:0000429 | Abnormality of the nasal alae |
| HP:0010938 | Abnormality of the external nose |
| http://purl.obolibrary.org/obo/UBERON_0003447 | digit nerve of manus |
| http://purl.obolibrary.org/obo/UBERON_0003449 | tail intervertebral disc |
| http://purl.obolibrary.org/obo/UBERON_0001066 | intervertebral disk |
| http://purl.obolibrary.org/obo/UBERON_0011135 | intervertebral cartilage |
| HP:0003186 | Inverted nipples |
| HP:0003185 | Short greater sciatic notch |
| HP:0003187 | Breast hypoplasia |
| HP:0010311 | Aplasia/Hypoplasia of the breasts |
| HP:0003182 | Shallow acetabular fossae |
| HP:0003184 | Decreased hip abduction |
| http://purl.obolibrary.org/obo/UBERON_0003443 | thoracic cavity nerve |
| HP:0003183 | Wide pubic symphysis |
| HP:0003037 | Enlarged joints |
| HP:0030789 | Excessive cerumen |
| HP:0030785 | Mediastinal cystic lymphangioma |
| HP:0100764 | Lymphangioma |
| HP:0010566 | Hamartoma |
| HP:0030786 | Photopsia |
| HP:0003189 | Long nose |
| http://purl.obolibrary.org/obo/CHEBI_83056 | Daphnia magna metabolite |
| HP:0030788 | Impacted cerumen |
| HP:0030770 | Craniorachischisis |
| HP:0030771 | Mallet finger |
| HP:0030772 | Proximal femoral focal deficiency |
| HP:0005613 | Aplasia/hypoplasia of the femur |
| HP:0030773 | Internuclear ophthalmoplegia |
| HP:0000602 | Ophthalmoplegia |
| HP:0000597 | Ophthalmoparesis |
| HP:0000496 | Abnormality of eye movement |
| HP:0008049 | Abnormality of the extraocular muscles |
| HP:0040108 | Morphological abnormality of the anterior semicircular canal |
| http://purl.obolibrary.org/obo/UBERON_0003456 | respiratory system lymphatic vessel |
| http://purl.obolibrary.org/obo/UBERON_0001473 | lymphatic vessel |
| HP:0040109 | Morphological abnormality of the utricle |
| http://purl.obolibrary.org/obo/GO_0030054 | cell junction |
| HP:0040106 | Morphological abnormality of the lateral semicircular canal |
| http://purl.obolibrary.org/obo/UBERON_0003458 | neck bone |
| HP:0040107 | Morphological abnormality of the posterior semicircular canal |
| http://purl.obolibrary.org/obo/UBERON_0003459 | chest bone |
| http://purl.obolibrary.org/obo/UBERON_0005175 | chest organ |
| http://purl.obolibrary.org/obo/UBERON_0003827 | thoracic segment bone |
| HP:0040104 | Osseous stenosis of the external auditory canal |
| HP:0040102 | Osseous atresia of the external auditory canal |
| HP:0040103 | Cutaneous stenosis of the external auditory canal |
| HP:0000402 | Stenosis of the external auditory canal |
| HP:0040100 | Abnormality of the vestibular window |
| HP:0003196 | Short nose |
| HP:0009924 | Aplasia/Hypoplasia involving the nose |
| HP:0005105 | Abnormal nasal morphology |
| HP:0040101 | Cutaneous atresia of the external auditory canal |
| HP:0000413 | Atresia of the external auditory canal |
| HP:0003199 | Decreased muscle mass |
| http://purl.obolibrary.org/obo/UBERON_0003450 | upper jaw incisor |
| http://purl.obolibrary.org/obo/UBERON_2001626 | premaxillary tooth |
| HP:0003193 | Allergic rhinitis |
| HP:0012393 | Allergy |
| HP:0003194 | Short nasal bridge |
| HP:0000422 | Abnormality of the nasal bridge |
| HP:0010939 | Abnormality of the nasal bone |
| HP:0010937 | Abnormality of the nasal skeleton |
| HP:0030778 | Modic type III vertebral endplate changes |
| HP:0030779 | Ethmocephaly |
| HP:0001360 | Holoprosencephaly |
| HP:0030774 | Mitochondrial swelling |
| HP:0012087 | Abnormal mitochondrial shape |
| HP:0008322 | Abnormal mitochondrial morphology |
| HP:0030776 | Modic type I vertebral endplate changes |
| HP:0030777 | Modic type II vertebral endplate changes |
| HP:0030775 | Modic type vertebral endplate changes |
| HP:0030760 | Renal fibrosis |
| HP:0030762 | Mesangiolysis |
| HP:0001966 | Mesangial abnormality |
| http://purl.obolibrary.org/obo/UBERON_0003466 | forelimb zeugopod bone |
| http://purl.obolibrary.org/obo/UBERON_0003468 | ureteric segment of renal artery |
| http://purl.obolibrary.org/obo/UBERON_0003460 | arm bone |
| http://purl.obolibrary.org/obo/UBERON_0003461 | shoulder bone |
| http://purl.obolibrary.org/obo/UBERON_0003462 | facial bone |
| http://purl.obolibrary.org/obo/UBERON_0003457 | head bone |
| http://purl.obolibrary.org/obo/UBERON_0007914 | bone of craniocervical region |
| http://purl.obolibrary.org/obo/UBERON_0003463 | trunk bone |
| http://purl.obolibrary.org/obo/GO_0030073 | insulin secretion |
| http://purl.obolibrary.org/obo/GO_0009306 | protein secretion |
| http://purl.obolibrary.org/obo/GO_0035592 | establishment of protein localization to extracellular region |
| http://purl.obolibrary.org/obo/GO_0071692 | protein localization to extracellular region |
| HP:0030767 | Epignathus |
| HP:0030769 | Exencephaly |
| http://purl.obolibrary.org/obo/CHEBI_83038 | Daphnia galeata metabolite |
| http://purl.obolibrary.org/obo/CHEBI_83057 | Daphnia metabolite |
| http://purl.obolibrary.org/obo/CHEBI_83039 | crustacean metabolite |
| http://purl.obolibrary.org/obo/CHEBI_75767 | animal metabolite |
| http://purl.obolibrary.org/obo/CHEBI_75763 | eukaryotic metabolite |
| http://purl.obolibrary.org/obo/CHEBI_25212 | metabolite |
| http://purl.obolibrary.org/obo/CHEBI_52206 | biochemical role |
| HP:0030763 | Amniotic Sheet |
| HP:0011409 | Abnormality of placental membranes |
| HP:0100767 | Abnormality of the placenta |
| HP:0001194 | Abnormalities of placenta or umbilical cord |
| HP:0030764 | Ochronosis |
| HP:0030765 | Sleep terror |
| HP:0025235 | Non-rapid eye movement parasomnia |
| HP:0025234 | Parasomnia |
| HP:0002360 | Sleep disturbance |
| HP:0030766 | Ear pain |
| HP:0030750 | Grade III preterm intraventricular hemorrhage |
| HP:0030751 | Grade IV preterm intraventricular hemorrhage |
| HP:0030747 | Preterm intraventricular hemorrhage |
| HP:0030746 | Intraventricular hemorrhage |
| HP:0002170 | Intracranial hemorrhage |
| HP:0100659 | Abnormality of the cerebral vasculature |
| http://purl.obolibrary.org/obo/UBERON_0015453 | subcutaneous lymph node |
| http://purl.obolibrary.org/obo/UBERON_0015454 | pancreatic fat pad |
| http://purl.obolibrary.org/obo/UBERON_0003477 | vein of upper lip |
| http://purl.obolibrary.org/obo/UBERON_0003478 | vein of lower lip |
| http://purl.obolibrary.org/obo/UBERON_0013136 | vein of lip |
| http://purl.obolibrary.org/obo/UBERON_0003502 | neck blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0009141 | craniocervical region vein |
| http://purl.obolibrary.org/obo/UBERON_0013140 | systemic vein |
| http://purl.obolibrary.org/obo/UBERON_0003479 | thoracic cavity vein |
| http://purl.obolibrary.org/obo/UBERON_0003470 | artery of upper lip |
| http://purl.obolibrary.org/obo/UBERON_0003471 | artery of lower lip |
| http://purl.obolibrary.org/obo/UBERON_0009657 | artery of lip |
| http://purl.obolibrary.org/obo/UBERON_0003472 | cerebellar artery |
| http://purl.obolibrary.org/obo/UBERON_0003473 | thoracic cavity artery |
| http://purl.obolibrary.org/obo/UBERON_0003474 | meningeal artery |
| http://purl.obolibrary.org/obo/UBERON_0003475 | ureteric vein |
| http://purl.obolibrary.org/obo/UBERON_0003520 | pelvis blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003835 | abdominal segment blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003476 | respiratory system venous blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0001638 | vein |
| http://purl.obolibrary.org/obo/UBERON_0003920 | venous blood vessel |
| HP:0030756 | Erythrodontia |
| HP:0011073 | Abnormality of dental color |
| HP:0030758 | Periapical tooth abscess |
| HP:0030757 | Tooth abscess |
| HP:0025615 | Abscess |
| HP:0011061 | Abnormality of dental structure |
| HP:0030759 | Adipocyte hypertrophy |
| http://purl.obolibrary.org/obo/UBERON_0015458 | mediastinal fat pad |
| http://purl.obolibrary.org/obo/UBERON_0003593 | thoracic cavity connective tissue |
| HP:0030752 | Dacryocystocele |
| HP:0000579 | Nasolacrimal duct obstruction |
| HP:0011481 | Abnormal lacrimal duct morphology |
| HP:0000614 | Abnormal nasolacrimal system morphology |
| HP:0030753 | Intrauterine fetal demise of one twin after midgestation |
| HP:0030754 | Allantoic cyst |
| HP:0010478 | Abnormality of the urachus |
| HP:0025487 | Abnormality of bladder morphology |
| HP:0000014 | Abnormality of the bladder |
| HP:0030755 | Craniofacial teratoma |
| HP:0009792 | Teratoma |
| HP:0002898 | Embryonal neoplasm |
| HP:0011792 | Neoplasm by histology |
| HP:0100728 | Germ cell neoplasia |
| http://purl.obolibrary.org/obo/UBERON_0003409 | gland of tongue |
| http://purl.obolibrary.org/obo/UBERON_0010047 | oral gland |
| http://www.informatics.jax.org/marker/MGI:105057 | Cdh5 (mouse) |
| http://purl.obolibrary.org/obo/PR_000046275 | PR:000046275 located_in GO:0005576 |
| http://purl.obolibrary.org/obo/PR_000018910 | adiponectin, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_Q15848 | adiponectin (human) |
| http://purl.obolibrary.org/obo/PR_000003777 | adiponectin |
| HP:0040139 | Lipogranulomatosis |
| HP:0002955 | Granulomatosis |
| http://purl.obolibrary.org/obo/UBERON_0003403 | skin of forearm |
| http://purl.obolibrary.org/obo/UBERON_0002427 | arm skin |
| http://purl.obolibrary.org/obo/UBERON_0003531 | forelimb skin |
| HP:0040137 | Comedonal acne |
| HP:0040138 | Mucinous histiocytosis |
| HP:0100727 | Histiocytosis |
| HP:0004311 | Abnormal macrophage morphology |
| http://purl.obolibrary.org/obo/UBERON_0003406 | cartilage of respiratory system |
| HP:0040135 | Abnormal transferrin saturation |
| http://purl.obolibrary.org/obo/UBERON_0003407 | cartilage of nasal septum |
| http://purl.obolibrary.org/obo/UBERON_0001823 | nasal cartilage |
| http://purl.obolibrary.org/obo/UBERON_0003566 | head connective tissue |
| HP:0003142 | Excessive purine production |
| HP:0003141 | Increased LDL cholesterol concentration |
| HP:0031886 | Abnormal LDL cholesterol concentration |
| HP:0040134 | Abnormal hepatic iron concentration |
| HP:0003144 | Increased serum serotonin |
| http://purl.obolibrary.org/obo/GO_0030097 | hemopoiesis |
| http://purl.obolibrary.org/obo/GO_0048534 | hematopoietic or lymphoid organ development |
| HP:0003140 | T-wave inversion in the right precordial leads |
| HP:0010872 | T-wave inversion |
| HP:0005135 | Abnormal T-wave |
| HP:0003115 | Abnormal EKG |
| HP:0500015 | Abnormal cardiac test |
| HP:0003149 | Hyperuricosuria |
| HP:0012610 | Abnormality of urinary uric acid concentration |
| HP:0003146 | Hypocholesterolemia |
| HP:0003145 | Decreased adenosylcobalamin |
| HP:0003148 | Elevated serum acid phosphatase |
| http://purl.obolibrary.org/obo/UBERON_0003419 | mesenchyme of parotid |
| http://purl.obolibrary.org/obo/UBERON_0003412 | pelvic appendage bud mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003413 | pectoral appendage bud mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010329 | paired limb/fin bud mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003414 | mesenchyme of mandible |
| http://purl.obolibrary.org/obo/UBERON_0003415 | mesenchyme of nasal septum |
| HP:0040148 | Cortical myoclonus |
| HP:0001336 | Myoclonus |
| HP:0004305 | Involuntary movements |
| http://purl.obolibrary.org/obo/UBERON_0003416 | mesenchyme of tongue |
| HP:0040149 | Woolly scalp hair |
| HP:0002224 | Woolly hair |
| HP:0010719 | Abnormality of hair texture |
| http://purl.obolibrary.org/obo/UBERON_0003417 | mesenchyme of soft palate |
| HP:0040146 | D-2-hydroxyglutaric acidemia |
| http://purl.obolibrary.org/obo/UBERON_0003418 | mesenchyme of submandibular gland |
| HP:0040147 | L-2-hydroxyglutaric acidemia |
| HP:0003153 | Cystathioninuria |
| HP:0040144 | L-2-hydroxyglutaric aciduria |
| HP:0032278 | 2-hydroxyglutarate aciduria |
| HP:0040145 | Dicarboxylic acidemia |
| HP:0010995 | Abnormal circulating dicarboxylic acid concentration |
| HP:0032368 | Acidemia |
| HP:0003155 | Elevated alkaline phosphatase |
| HP:0040142 | Reduced 5-oxoprolinase level |
| HP:0003154 | Increased circulating ACTH level |
| HP:0011043 | Abnormality of circulating adrenocorticotropin level |
| HP:0040143 | Dystopic os odontoideum |
| HP:0005667 | Os odontoideum |
| HP:0040140 | Degeneration of the striatum |
| HP:0002180 | Neurodegeneration |
| HP:0010994 | Abnormal corpus striatum morphology |
| HP:0002134 | Abnormality of the basal ganglia |
| HP:0040141 | Tardive dyskinesia |
| HP:0100660 | Dyskinesia |
| HP:0003150 | Glutaric aciduria |
| http://purl.obolibrary.org/obo/CHEBI_36699 | corticosteroid hormone |
| http://purl.obolibrary.org/obo/CHEBI_50858 | corticosteroid |
| http://purl.obolibrary.org/obo/CHEBI_26764 | steroid hormone |
| http://purl.obolibrary.org/obo/CHEBI_58001 | primary aliphatic ammonium ion |
| HP:0003159 | Hyperoxaluria |
| HP:0003158 | Hyposthenuria |
| http://purl.obolibrary.org/obo/UBERON_0003422 | mesenchyme of umbilical cord |
| HP:0040119 | Unilateral conductive hearing impairment |
| HP:0000405 | Conductive hearing impairment |
| http://purl.obolibrary.org/obo/UBERON_0003424 | mesenchyme of hard palate |
| HP:0040117 | Atresia of the Eustachian tube |
| http://purl.obolibrary.org/obo/UBERON_0003425 | renal lymph node |
| http://purl.obolibrary.org/obo/UBERON_0000029 | lymph node |
| http://purl.obolibrary.org/obo/UBERON_0005057 | immune organ |
| HP:0040118 | Stenosis of the Eustachian tube |
| http://purl.obolibrary.org/obo/UBERON_0003426 | dermis adipose tissue |
| http://purl.obolibrary.org/obo/UBERON_0003585 | dermis connective tissue |
| HP:0040116 | Aplasia of the Eustachian tube |
| http://purl.obolibrary.org/obo/UBERON_0003428 | gonadal fat pad |
| HP:0040113 | Old-aged sensorineural hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000365 | Hearing impairment |
| HP:0000364 | Hearing abnormality |
| HP:0031704 | Abnormal ear physiology |
| HP:0011389 | Functional abnormality of the inner ear |
| http://purl.obolibrary.org/obo/UBERON_0003429 | abdomen nerve |
| http://purl.obolibrary.org/obo/UBERON_0003825 | nerve of abdominal segment |
| HP:0040114 | Absence of the reflex of the tensor tympani muscle |
| HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency |
| HP:0500012 | Abnormality of gonadotropin-releasing hormone level |
| HP:0012285 | Abnormal hypothalamus physiology |
| HP:0040111 | Bilateral external ear deformity |
| HP:0003163 | Elevated urinary delta-aminolevulinic acid |
| HP:0040112 | Abnormal number of tubercles |
| HP:0003166 | Increased urinary taurine |
| HP:0003165 | Elevated circulating parathyroid hormone level |
| HP:0100530 | Abnormal calcium-phosphate regulating hormone level |
| HP:0040110 | Morphological abnormality of the saccule |
| HP:0011380 | Morphological abnormality of the semicircular canal |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0012347 | Abnormal protein N-linked glycosylation |
| HP:0012346 | Abnormal protein glycosylation |
| HP:0012345 | Abnormal glycosylation |
| HP:0003162 | Fasting hypoglycemia |
| HP:0001943 | Hypoglycemia |
| HP:0011015 | Abnormal blood glucose concentration |
| http://purl.obolibrary.org/obo/UBERON_0003420 | mesenchyme of sublingual gland |
| HP:0003161 | 4-Hydroxyphenylpyruvic aciduria |
| HP:0003168 | Dibasicaminoaciduria |
| HP:0003167 | Carnosinuria |
| HP:0030792 | Jaw neoplasm |
| HP:0012289 | Facial neoplasm |
| HP:0012288 | Neoplasm of head and neck |
| HP:0030793 | Jaw swelling |
| HP:0030795 | Reduced C-peptide level |
| HP:0030790 | Abnormal cerumen color |
| HP:0030787 | Cerumen abnormality |
| HP:0000372 | Abnormality of the auditory canal |
| http://purl.obolibrary.org/obo/UBERON_0015410 | heart plus pericardium |
| http://purl.obolibrary.org/obo/UBERON_0005178 | thoracic cavity element |
| http://purl.obolibrary.org/obo/UBERON_0002075 | viscus |
| http://purl.obolibrary.org/obo/UBERON_0003433 | arm nerve |
| http://purl.obolibrary.org/obo/UBERON_0003434 | wrist nerve |
| http://purl.obolibrary.org/obo/UBERON_0003448 | manus nerve |
| http://purl.obolibrary.org/obo/UBERON_0003441 | forelimb nerve |
| HP:0003180 | Flat acetabular roof |
| http://purl.obolibrary.org/obo/UBERON_0003435 | pedal digit nerve |
| http://purl.obolibrary.org/obo/UBERON_0003445 | pes nerve |
| HP:0040128 | Abnormal sweat electrolytes |
| http://purl.obolibrary.org/obo/UBERON_0003436 | shoulder nerve |
| http://purl.obolibrary.org/obo/UBERON_0003437 | eyelid nerve |
| http://purl.obolibrary.org/obo/UBERON_0003438 | iris nerve |
| http://purl.obolibrary.org/obo/CARO_0001001 | neuron projection bundle |
| http://purl.obolibrary.org/obo/CARO_0001000 | multi-cell-part structure |
| HP:0040127 | Abnormal sweat homeostasis |
| HP:0040124 | Patent tuba eustachii |
| HP:0003175 | Hypoplastic ischia |
| HP:0040122 | Impairment of the the acoustic reflex |
| HP:0040123 | Impairment of the reflex of the tensor tympani muscle |
| HP:0003177 | Squared iliac bones |
| HP:0040120 | Abnormality of the reflex of the tensor tympani muscle |
| HP:0040121 | Abnormality of the acoustic reflex |
| HP:0004454 | Abnormal middle ear reflexes |
| HP:0011452 | Functional abnormality of the middle ear |
| http://purl.obolibrary.org/obo/UBERON_0003430 | neck nerve |
| HP:0003173 | Hypoplastic pubic bone |
| HP:0009104 | Aplasia/Hypoplasia of the pubic bone |
| HP:0009103 | Aplasia/Hypoplasia involving the pelvis |
| http://purl.obolibrary.org/obo/UBERON_0003431 | leg nerve |
| http://purl.obolibrary.org/obo/UBERON_0003442 | hindlimb nerve |
| http://purl.obolibrary.org/obo/UBERON_0003440 | limb nerve |
| HP:0003172 | Abnormality of the pubic bone |
| http://purl.obolibrary.org/obo/UBERON_0003432 | chest nerve |
| http://purl.obolibrary.org/obo/UBERON_0003824 | nerve of thoracic segment |
| http://purl.obolibrary.org/obo/UBERON_0003439 | nerve of trunk region |
| HP:0030796 | Increased C-peptide level |
| HP:0030794 | Abnormal C-peptide level |
| HP:0003179 | Protrusio acetabuli |
| HP:0030797 | Reduced volume of central subdivision of bed nucleus of stria terminalis |
| HP:0030798 | Abnormality of the bed nucleus of stria terminalis |
| HP:0030799 | Scaphocephaly |
| HP:0000268 | Dolichocephaly |
| http://purl.obolibrary.org/obo/UBERON_0015418 | urethra mesenchymal layer |
| HP:0040059 | Calcification of ribs |
| HP:0040056 | Absent upper eyelashes |
| HP:0000561 | Absent eyelashes |
| HP:0002550 | Absent facial hair |
| HP:0002298 | Absent hair |
| HP:0040057 | Abnormality of nasal hair |
| HP:0040054 | Short upper eyelashes |
| HP:0040055 | Short lower eyelashes |
| HP:0010764 | Short eyelashes |
| HP:0040053 | Long lower eyelashes |
| HP:0040052 | Abnormality of lower eyelashes |
| HP:0000527 | Long eyelashes |
| HP:0040050 | Sparse upper eyelashes |
| HP:0000653 | Sparse eyelashes |
| HP:0200102 | Sparse or absent eyelashes |
| HP:0002209 | Sparse scalp hair |
| HP:0008070 | Sparse hair |
| HP:0010720 | Abnormal hair pattern |
| HP:0011362 | Abnormal hair quantity |
| HP:0100037 | Abnormality of the scalp hair |
| HP:0001965 | Abnormality of the scalp |
| HP:0040051 | Abnormality of upper eyelashes |
| HP:0000499 | Abnormal eyelash morphology |
| HP:0040061 | Osteosclerosis of the radius |
| HP:0003967 | Sclerotic forearm bones |
| HP:0040062 | Slender radius |
| HP:0003969 | Slender forearm bones |
| HP:0045008 | Abnormal shape of the radius |
| HP:0045009 | Abnormal morphology of the radius |
| HP:0003100 | Slender long bone |
| http://purl.obolibrary.org/obo/CHEBI_24628 | imidazolidine-2,4-dione |
| http://purl.obolibrary.org/obo/CHEBI_55370 | imidazolidinone |
| http://purl.obolibrary.org/obo/CHEBI_38261 | imidazolidines |
| http://purl.obolibrary.org/obo/CHEBI_38304 | diazolidine |
| http://purl.obolibrary.org/obo/CHEBI_25693 | organic heteromonocyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_33670 | heteromonocyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_33661 | monocyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_24621 | hormone |
| http://purl.obolibrary.org/obo/CHEBI_33280 | molecular messenger |
| HP:0040039 | Onycholysis of fingernails |
| HP:0040036 | Onychogryposis of fingernail |
| HP:0001805 | Onychogryposis |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0040034 | Abnormality of the second metatarsal bone |
| HP:0040035 | Abnormality of the fourth metatarsal bone |
| http://purl.obolibrary.org/obo/CHEBI_36608 | acyclic acid anhydride |
| http://purl.obolibrary.org/obo/CHEBI_36606 | acid anhydride |
| HP:0040032 | Hypoplasia of the upper eyelids |
| HP:0430009 | Hypoplasia of eyelid |
| HP:0011226 | Aplasia/Hypoplasia of the eyelid |
| HP:0040033 | Aplasia/Hypoplasia of the fifth metatarsal bone |
| HP:0001964 | Aplasia/Hypoplasia of metatarsal bones |
| HP:0006494 | Aplasia/Hypoplasia involving bones of the feet |
| HP:0008089 | Abnormality of the fifth metatarsal bone |
| HP:0001832 | Abnormal metatarsal morphology |
| http://purl.obolibrary.org/obo/GO_0019693 | ribose phosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0006796 | phosphate-containing compound metabolic process |
| HP:0040030 | Chorioretinal hypopigmentation |
| HP:0040031 | Chorioretinal hyperpigmentation |
| HP:0007661 | Abnormality of chorioretinal pigmentation |
| HP:0000532 | Abnormal chorioretinal morphology |
| http://purl.obolibrary.org/obo/HsapDv_0000082 | newborn human stage |
| http://purl.obolibrary.org/obo/HsapDv_0000083 | infant stage |
| http://purl.obolibrary.org/obo/HsapDv_0000080 | immature stage |
| http://purl.obolibrary.org/obo/HsapDv_0000081 | child stage |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11801 | THY1 (human) |
| http://purl.obolibrary.org/obo/CHEBI_24612 | homocystines |
| http://purl.obolibrary.org/obo/CHEBI_35489 | organic disulfide |
| http://purl.obolibrary.org/obo/CHEBI_48343 | disulfide |
| http://purl.obolibrary.org/obo/CHEBI_26834 | sulfur-containing amino acid |
| http://purl.obolibrary.org/obo/CHEBI_33576 | sulfur-containing carboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_33261 | organosulfur compound |
| http://purl.obolibrary.org/obo/HsapDv_0000086 | adolescent stage |
| http://purl.obolibrary.org/obo/HsapDv_0000087 | human adult stage |
| http://purl.obolibrary.org/obo/HsapDv_0000088 | human early adulthood stage |
| http://purl.obolibrary.org/obo/HsapDv_0000089 | young adult stage |
| HP:0040049 | Macular edema |
| HP:0030498 | Macular thickening |
| http://purl.obolibrary.org/obo/CHEBI_24610 | homocysteines |
| HP:0040047 | Abnormal right hemidiaphragm morphology |
| HP:0040046 | Abnormal left hemidiaphragm morphology |
| HP:0040045 | Abnormal hemidiaphragm morphology |
| HP:0040043 | Hypoplasia of the eccrine sweat glands |
| HP:0007387 | Hypoplastic sweat glands |
| HP:0040044 | Hypoplasia of the diaphragm |
| HP:0010315 | Aplasia/Hypoplasia of the diaphragm |
| HP:0000775 | Abnormality of the diaphragm |
| HP:0009131 | Abnormality of the musculature of the thorax |
| HP:0009004 | Hypoplasia of the musculature |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
| HP:0040042 | Aplasia of the eccrine sweat glands |
| HP:0011136 | Aplasia of the sweat glands |
| HP:0007592 | Aplasia/Hypoplastia of the eccrine sweat glands |
| HP:0011135 | Aplasia/Hypoplasia of the sweat glands |
| HP:0000971 | Abnormal sweat gland morphology |
| HP:0040040 | Toenail onycholysis |
| HP:0008388 | Abnormal toenail morphology |
| HP:0001806 | Onycholysis |
| HP:0009723 | Abnormality of the subungual region |
| http://purl.obolibrary.org/obo/HsapDv_0000091 | human late adulthood stage |
| http://purl.obolibrary.org/obo/HsapDv_0000092 | human middle aged stage |
| http://purl.obolibrary.org/obo/GO_0030003 | cellular cation homeostasis |
| http://purl.obolibrary.org/obo/GO_0006873 | cellular ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0055082 | cellular chemical homeostasis |
| http://purl.obolibrary.org/obo/GO_0055080 | cation homeostasis |
| http://purl.obolibrary.org/obo/GO_0050801 | ion homeostasis |
| http://purl.obolibrary.org/obo/GO_0048878 | chemical homeostasis |
| HP:0040098 | Basalioma of the outer ear |
| HP:0002671 | Basal cell carcinoma |
| HP:0040099 | Abnormality of the round window |
| HP:0040096 | Neoplasm of the inner ear |
| HP:0040097 | Neoplasm of the ceruminal gland |
| HP:0040095 | Neoplasm of the outer ear |
| HP:0012780 | Neoplasm of the ear |
| HP:0040092 | Asymmetry of the shape of the ears |
| HP:0040093 | Asymmetry of the position of the ears |
| HP:0040090 | Abnormality of the tympanic membrane |
| HP:0040091 | Asymmetry of the size of ears |
| HP:0010722 | Asymmetry of the ears |
| HP:0000377 | Abnormality of the pinna |
| http://purl.obolibrary.org/obo/GO_0030016 | myofibril |
| http://purl.obolibrary.org/obo/GO_0043292 | contractile fiber |
| http://purl.obolibrary.org/obo/GO_0043232 | intracellular non-membrane-bounded organelle |
| http://purl.obolibrary.org/obo/GO_0043228 | non-membrane-bounded organelle |
| http://purl.obolibrary.org/obo/GO_0099512 | supramolecular fiber |
| http://purl.obolibrary.org/obo/GO_0099081 | supramolecular polymer |
| http://purl.obolibrary.org/obo/GO_0099080 | supramolecular complex |
| http://purl.obolibrary.org/obo/CHEBI_24632 | hydrocarbon |
| http://purl.obolibrary.org/obo/CHEBI_33245 | organic fundamental parent |
| http://purl.obolibrary.org/obo/CHEBI_37175 | organic hydride |
| http://purl.obolibrary.org/obo/CHEBI_33692 | hydrides |
| http://purl.obolibrary.org/obo/GO_0030017 | sarcomere |
| http://purl.obolibrary.org/obo/GO_0032682 | negative regulation of chemokine production |
| http://purl.obolibrary.org/obo/CHEBI_24662 | hydroxy-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_83925 | non-proteinogenic alpha-amino acid |
| http://purl.obolibrary.org/obo/GO_0032689 | negative regulation of interferon-gamma production |
| http://purl.obolibrary.org/obo/GO_0001818 | negative regulation of cytokine production |
| http://purl.obolibrary.org/obo/CHEBI_24663 | hydroxy-5beta-cholanic acid |
| http://purl.obolibrary.org/obo/CHEBI_36248 | 5beta-cholanic acids |
| http://purl.obolibrary.org/obo/CHEBI_136889 | 5beta steroid |
| http://purl.obolibrary.org/obo/CHEBI_36278 | cholanic acids |
| http://purl.obolibrary.org/obo/CHEBI_47891 | steroid acid |
| http://purl.obolibrary.org/obo/CHEBI_36078 | cholanoid |
| HP:0040078 | Axonal degeneration |
| HP:0040079 | Irregular dentition |
| http://purl.obolibrary.org/obo/GO_0030031 | cell projection assembly |
| http://purl.obolibrary.org/obo/GO_0022607 | cellular component assembly |
| HP:0040071 | Abnormal morphology of ulna |
| HP:0002997 | Abnormality of the ulna |
| http://purl.obolibrary.org/obo/CHEBI_24654 | hydroxy fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_35868 | hydroxy monocarboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_24669 | hydroxy carboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_35366 | fatty acid |
| http://purl.obolibrary.org/obo/CHEBI_25384 | monocarboxylic acid |
| HP:0040087 | Abnormal blood folate concentration |
| HP:0012335 | Abnormality of folate metabolism |
| HP:0040085 | Abnormal circulating aldosterone |
| HP:0040086 | Abnormal prolactin level |
| HP:0000830 | Anterior hypopituitarism |
| HP:0040075 | Hypopituitarism |
| HP:0011747 | Abnormality of the anterior pituitary |
| HP:0040083 | Toe walking |
| HP:0040082 | Happy demeanor |
| HP:0100851 | Abnormal emotion/affect behavior |
| HP:0040080 | Anteverted ears |
| HP:0000357 | Abnormal location of ears |
| HP:0000356 | Abnormality of the outer ear |
| http://purl.obolibrary.org/obo/GO_0007605 | sensory perception of sound |
| http://purl.obolibrary.org/obo/GO_0050954 | sensory perception of mechanical stimulus |
| http://purl.obolibrary.org/obo/GO_0007608 | sensory perception of smell |
| http://purl.obolibrary.org/obo/GO_0007606 | sensory perception of chemical stimulus |
| http://purl.obolibrary.org/obo/CHEBI_132966 | hippurate |
| http://purl.obolibrary.org/obo/CHEBI_57670 | N-acylglycinate |
| http://purl.obolibrary.org/obo/GO_0007601 | visual perception |
| http://purl.obolibrary.org/obo/GO_0050953 | sensory perception of light stimulus |
| http://purl.obolibrary.org/obo/GO_0007600 | sensory perception |
| http://purl.obolibrary.org/obo/GO_0050877 | nervous system process |
| http://purl.obolibrary.org/obo/CHEBI_132961 | methylsuccinate |
| http://purl.obolibrary.org/obo/CHEBI_132970 | 5-ammoniolevulinic acid |
| http://purl.obolibrary.org/obo/CHEBI_65296 | primary ammonium ion |
| http://purl.obolibrary.org/obo/CHEBI_35274 | ammonium ion derivative |
| http://purl.obolibrary.org/obo/CHEBI_33702 | polyatomic cation |
| http://purl.obolibrary.org/obo/CHEBI_25697 | organic cation |
| HP:0005709 | 2-3 toe cutaneous syndactyly |
| HP:0010621 | Cutaneous syndactyly of toes |
| HP:0012725 | Cutaneous syndactyly |
| HP:0006101 | Finger syndactyly |
| HP:0001770 | Toe syndactyly |
| HP:0001159 | Syndactyly |
| http://purl.obolibrary.org/obo/UBERON_2005260 | fenestrated capillary |
| http://purl.obolibrary.org/obo/UBERON_0001982 | capillary |
| http://purl.obolibrary.org/obo/UBERON_0010523 | microcirculatory vessel |
| http://purl.obolibrary.org/obo/UBERON_0004638 | blood vessel endothelium |
| http://purl.obolibrary.org/obo/UBERON_0004852 | cardiovascular system endothelium |
| HP:0005707 | Bilateral triphalangeal thumbs |
| http://purl.obolibrary.org/obo/GO_0007631 | feeding behavior |
| http://purl.obolibrary.org/obo/CHEBI_132954 | sebacate |
| http://purl.obolibrary.org/obo/CHEBI_132952 | oxalate |
| http://purl.obolibrary.org/obo/GO_0007626 | locomotory behavior |
| HP:0005701 | Multiple enchondromatosis |
| HP:0002763 | Abnormal cartilage morphology |
| HP:0030038 | Enchondroma |
| HP:0005700 | Increased bone density with cystic changes |
| HP:0011001 | Increased bone mineral density |
| http://purl.obolibrary.org/obo/HsapDv_0000002 | embryonic human stage |
| http://purl.obolibrary.org/obo/UBERON_2005273 | intestinal mucosal muscle |
| http://purl.obolibrary.org/obo/UBERON_0004221 | intestine smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004226 | gastrointestinal system smooth muscle |
| HP:0005716 | Lethal skeletal dysplasia |
| http://purl.obolibrary.org/obo/HsapDv_0000001 | human life cycle |
| http://purl.obolibrary.org/obo/GO_0007620 | copulation |
| http://purl.obolibrary.org/obo/CHEBI_132943 | aspartate |
| http://purl.obolibrary.org/obo/CHEBI_33558 | alpha-amino-acid anion |
| http://purl.obolibrary.org/obo/CHEBI_37022 | amino-acid anion |
| http://purl.obolibrary.org/obo/GO_0007622 | rhythmic behavior |
| http://purl.obolibrary.org/obo/CHEBI_132941 | 2-hydroxyglutarate |
| http://purl.obolibrary.org/obo/GO_0007623 | circadian rhythm |
| http://purl.obolibrary.org/obo/GO_0048511 | rhythmic process |
| http://purl.obolibrary.org/obo/GO_0007617 | mating behavior |
| http://purl.obolibrary.org/obo/GO_0019098 | reproductive behavior |
| http://purl.obolibrary.org/obo/GO_0007610 | behavior |
| http://purl.obolibrary.org/obo/GO_0048609 | multicellular organismal reproductive process |
| http://purl.obolibrary.org/obo/GO_0007618 | mating |
| HP:0005715 | Flattened knee epiphyses |
| http://purl.obolibrary.org/obo/CHEBI_132939 | ethylmalonate(2-) |
| http://purl.obolibrary.org/obo/CHEBI_28965 | dicarboxylic acid dianion |
| http://purl.obolibrary.org/obo/CHEBI_38716 | carboxylic acid dianion |
| http://purl.obolibrary.org/obo/CHEBI_132938 | ethylmalonate |
| http://purl.obolibrary.org/obo/HsapDv_0000037 | fetal stage |
| http://purl.obolibrary.org/obo/GO_0032609 | interferon-gamma production |
| http://purl.obolibrary.org/obo/GO_0032602 | chemokine production |
| http://purl.obolibrary.org/obo/GO_0001816 | cytokine production |
| http://purl.obolibrary.org/obo/GO_0010467 | gene expression |
| http://purl.obolibrary.org/obo/GO_0019637 | organophosphate metabolic process |
| http://purl.obolibrary.org/obo/GO_0006793 | phosphorus metabolic process |
| http://purl.obolibrary.org/obo/HsapDv_0000045 | prenatal stage |
| HP:0005880 | Metacarpophalangeal synostosis |
| HP:0009700 | Finger symphalangism |
| HP:0100262 | Synostosis involving digits |
| HP:0011911 | Abnormality of metacarpophalangeal joint |
| HP:0005881 | Spinal instability |
| HP:0005882 | Dermatoglyphic variants |
| HP:0003221 | Chromosomal breakage induced by crosslinking agents |
| HP:0040012 | Chromosome breakage |
| HP:0003220 | Abnormality of chromosome stability |
| HP:0030826 | Eyelid fasciculation |
| HP:0031785 | Abnormal eyelid movement |
| HP:0031879 | Abnormal eyelid physiology |
| HP:0032040 | Abnormal ocular adnexa physiology |
| HP:0030828 | Wheezing |
| HP:0030822 | Hooded upper eyelid |
| HP:0030823 | Scleral thickening |
| HP:0003226 | Rectilinear intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0030824 | Mizuo phenomenon |
| HP:0030825 | Absent foveal reflex |
| HP:0000493 | Abnormal foveal morphology |
| HP:0001103 | Abnormal macular morphology |
| HP:0000479 | Abnormal retinal morphology |
| HP:0003228 | Hypernatremia |
| HP:0010931 | Abnormal blood sodium concentration |
| HP:0010930 | Abnormal blood monovalent inorganic cation concentration |
| HP:0003223 | Decreased methylcobalamin |
| HP:0040126 | Abnormal vitamin B12 level |
| HP:0004341 | Abnormality of vitamin B12 metabolism |
| HP:0004340 | Abnormality of vitamin B metabolism |
| HP:0100508 | Abnormality of vitamin metabolism |
| HP:0005885 | Absent ossification of cervical vertebral bodies |
| HP:0004599 | Absent or minimally ossified vertebral bodies |
| HP:0100569 | Abnormally ossified vertebrae |
| HP:0003225 | Reduced coagulation factor V activity |
| HP:0031899 | Abnormal coagulation factor V activity |
| HP:0005886 | Aphalangy of the hands |
| HP:0030821 | Hooded lower eyelid |
| HP:0030820 | Hooded eyelid |
| HP:0003224 | Increased cellular sensitivity to UV light |
| HP:0005891 | Progressive forearm bowing |
| HP:0003956 | Bowed forearm bones |
| HP:0006488 | Bowing of the arm |
| HP:0040073 | Abnormal forearm bone morphology |
| HP:0006383 | Progressive bowing of long bones |
| HP:0006487 | Bowing of the long bones |
| HP:0030819 | Ski jump nail |
| http://purl.obolibrary.org/obo/NCBITaxon_10090 | Mus musculus |
| http://purl.obolibrary.org/obo/NCBITaxon_9989 | Rodentia |
| http://purl.obolibrary.org/obo/NCBITaxon_40674 | Mammalia |
| http://purl.obolibrary.org/obo/NCBITaxon_33208 | Metazoa |
| http://purl.obolibrary.org/obo/NCBITaxon_33154 | Opisthokonta |
| http://purl.obolibrary.org/obo/NCBITaxon_2759 | Eukaryota |
| http://purl.obolibrary.org/obo/OBI_0100026 | organism |
| HP:0005892 | Proximal tibial and fibular fusion |
| HP:0003232 | Mitochondrial malic enzyme reduced |
| HP:0005894 | Double first metacarpals |
| HP:0003231 | Hypertyrosinemia |
| HP:0010917 | Abnormal circulating tyrosine concentration |
| HP:0004338 | Abnormal circulating aromatic amino acid concentration |
| HP:0030815 | Lipoma of the tongue |
| HP:0100648 | Neoplasm of the tongue |
| HP:0100649 | Neoplasm of the oral cavity |
| HP:0030816 | Gingival recession |
| HP:0000168 | Abnormality of the gingiva |
| HP:0030817 | Beaked nails |
| HP:0005890 | Hyperostosis cranialis interna |
| HP:0004437 | Cranial hyperostosis |
| HP:0100774 | Hyperostosis |
| HP:0030818 | Central nail canal |
| HP:0008404 | Nail dystrophy |
| HP:0003238 | Hyperpepsinogenemia I |
| HP:0005899 | Metaphyseal dysostosis |
| HP:0030811 | Tongue pain |
| HP:0003237 | Increased circulating IgG level |
| HP:0410242 | Abnormal circulating IgG level |
| HP:0030814 | Orange discolored tonsils |
| HP:0003239 | Phosphoethanolaminuria |
| HP:0003109 | Hyperphosphaturia |
| HP:0012599 | Abnormal urine phosphate concentration |
| HP:0012591 | Abnormal urinary electrolyte concentration |
| HP:0005895 | Radial deviation of thumb terminal phalanx |
| HP:0009617 | Abnormality of the distal phalanx of the thumb |
| HP:0003234 | Decreased plasma carnitine |
| HP:0010967 | Abnormal circulating carnitine concentration |
| HP:0010966 | Abnormal circulating fatty-acid anion concentration |
| HP:0003233 | Decreased HDL cholesterol concentration |
| HP:0010981 | Hypolipoproteinemia |
| HP:0031888 | Abnormal HDL cholesterol concentration |
| HP:0005897 | Severe generalized osteoporosis |
| HP:0003236 | Elevated serum creatine kinase |
| HP:0040081 | Abnormal circulating creatine kinase concentration |
| HP:0011021 | Abnormality of circulating enzyme level |
| HP:0030810 | Abnormal tongue physiology |
| HP:0003235 | Hypermethioninemia |
| HP:0010901 | Abnormal circulating methionine concentration |
| http://www.informatics.jax.org/marker/MGI:107538 | Klrb1c (mouse) |
| HP:0030808 | Ragged cuticle |
| HP:0003241 | External genital hypoplasia |
| HP:0003240 | Increased phosphoribosylpyrophosphate synthetase level |
| HP:0032459 | Abnormal phosphoribosylpyrophosphate synthetase level |
| HP:0030804 | Trachyonychia |
| HP:0030805 | Absent lunula |
| HP:0030806 | Fast-growing nails |
| HP:0030807 | Abnormal nail growth |
| HP:0003249 | Genital ulcers |
| HP:0003248 | Gonadal tissue inappropriate for external genitalia or chromosomal sex |
| HP:0000062 | Ambiguous genitalia |
| HP:0030801 | Reduced visual accommodation |
| HP:0030800 | Abnormal visual accommodation |
| HP:0410149 | Drug-induced anaphylaxis |
| HP:0030802 | Lower eyelid retraction |
| HP:0500043 | Eyelid retraction |
| HP:0030803 | Platonychia |
| HP:0002164 | Nail dysplasia |
| HP:0001597 | Abnormality of the nail |
| HP:0410146 | Increased biotinidase level |
| HP:0003244 | Penile hypospadias |
| HP:0000047 | Hypospadias |
| HP:0100627 | Displacement of the urethral meatus |
| HP:0000795 | Abnormality of the urethra |
| HP:0010936 | Abnormality of the lower urinary tract |
| HP:0032076 | Abnormal male urethral meatus morphology |
| HP:0000036 | Abnormality of the penis |
| HP:0410145 | Decreased biotinidase level |
| HP:0410144 | Abnormal biotinidase level |
| HP:0003247 | Overgrowth of external genitalia |
| HP:0410148 | Idiopathic anaphylaxis |
| HP:0003246 | Prominent scrotal raphe |
| HP:0000045 | Abnormality of the scrotum |
| HP:0410147 | Eosinophilic infiltration in the stomach mucosa |
| HP:0005263 | Gastritis |
| HP:0004295 | Abnormality of the gastric mucosa |
| HP:0002577 | Abnormality of the stomach |
| HP:0004386 | Gastrointestinal inflammation |
| HP:0032064 | Gastrointestinal eosinophilia |
| http://purl.obolibrary.org/obo/PR_Q14376 | PR:Q14376 located_in GO:0005829 |
| http://purl.obolibrary.org/obo/PR_000007812 | UDP-glucose 4-epimerase |
| HP:0003252 | Anteriorly displaced genitalia |
| HP:0003251 | Male infertility |
| HP:0000789 | Infertility |
| HP:0012041 | Decreased fertility in males |
| HP:0000144 | Decreased fertility |
| HP:0410133 | Chronic idiopathic urticaria |
| HP:0410132 | Increased level of L-pyroglutamic acid in urine |
| HP:0003250 | Aplasia of the vagina |
| HP:0011026 | Aplasia/Hypoplasia of the vagina |
| HP:0410139 | Exercise induced anaphylaxis |
| HP:0100845 | Anaphylactic shock |
| HP:0100326 | Immunologic hypersensitivity |
| HP:0003259 | Elevated serum creatinine |
| HP:0012100 | Abnormal circulating creatinine level |
| HP:0410138 | Vibratory urticaria |
| HP:0410135 | Cold urticaria |
| HP:0003258 | Glyoxalase deficiency |
| HP:0410137 | Solar urticaria |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0410136 | Aquagenic urticaria |
| HP:0410134 | Physical urticaria |
| HP:0001025 | Urticaria |
| HP:0030861 | Decreased CSF amyloid level |
| HP:0005849 | Diffuse cerebral calcification |
| HP:0002514 | Cerebral calcification |
| http://purl.obolibrary.org/obo/UBERON_0003368 | epithelium of hard palate |
| http://purl.obolibrary.org/obo/UBERON_0003360 | epithelium of parotid gland |
| http://purl.obolibrary.org/obo/UBERON_0003361 | epithelium of sublingual gland |
| http://purl.obolibrary.org/obo/UBERON_0003364 | epithelium of right lung |
| http://purl.obolibrary.org/obo/UBERON_0003365 | epithelium of left lung |
| http://purl.obolibrary.org/obo/UBERON_0000115 | lung epithelium |
| HP:0005844 | Rounded middle phalanx of finger |
| HP:0030866 | Large knee |
| HP:0002815 | Abnormality of the knee |
| HP:0030867 | Vertical orbital dystopia |
| HP:0100886 | Abnormality of globe location |
| HP:0030868 | Monorchism |
| HP:0030869 | Anorchism |
| HP:0000035 | Abnormal testis morphology |
| HP:0000032 | Abnormality of male external genitalia |
| HP:0030862 | Elevated CSF amyloid level |
| HP:0030860 | Abnormal CSF amyloid level |
| HP:0025456 | Abnormal CSF protein level |
| HP:0005841 | Calcific stippling of infantile cartilaginous skeleton |
| HP:0030863 | Nasal flaring |
| HP:0030864 | Intercostal retractions |
| HP:0002098 | Respiratory distress |
| HP:0002094 | Dyspnea |
| HP:0030865 | Large elbow |
| http://purl.obolibrary.org/obo/UBERON_0003379 | cardiac muscle of right atrium |
| http://www.informatics.jax.org/marker/MGI:107527 | Ly6a (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0003371 | pelvic appendage bud ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0003372 | pectoral appendage bud ectoderm |
| HP:0005850 | Congenital talipes calcaneovalgus |
| HP:0001884 | Talipes calcaneovalgus |
| HP:0001883 | Talipes |
| HP:0005656 | Positional foot deformity |
| http://purl.obolibrary.org/obo/UBERON_0003373 | ectoderm of footplate |
| http://purl.obolibrary.org/obo/UBERON_0000924 | ectoderm |
| HP:0030859 | Topoisomerase I antibody positivity |
| http://purl.obolibrary.org/obo/UBERON_0003374 | chorionic ectoderm |
| HP:0005855 | Multiple prenatal fractures |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0030855 | Anterior staphyloma |
| HP:0005856 | Ulnar radial head dislocation |
| HP:0003083 | Dislocated radial head |
| HP:0003995 | Abnormality of the radial head |
| HP:0010596 | Abnormality of the proximal radial epiphysis |
| HP:0003999 | Abnormality of radial epiphyses |
| HP:0002818 | Abnormality of the radius |
| HP:0040072 | Abnormality of forearm bone |
| HP:0003946 | Abnormality of the epiphyses of the elbow |
| HP:0003042 | Elbow dislocation |
| HP:0030310 | Upper extremity joint dislocation |
| HP:0100744 | Abnormality of the humeroradial joint |
| HP:0030856 | Posterior staphyloma |
| HP:0005857 | Cervical spina bifida |
| HP:0030857 | Eye movement-induced pain |
| HP:0200026 | Ocular pain |
| HP:0030851 | Low pulse pressure |
| HP:0005852 | Limited elbow extension and supination |
| HP:0001377 | Limited elbow extension |
| HP:0002996 | Limited elbow movement |
| HP:0009811 | Abnormality of the elbow |
| HP:0030852 | High pulse pressure |
| HP:0030850 | Abnormal pulse pressure |
| HP:0005853 | Congenital foot contraction deformities |
| HP:0030854 | Scleral staphyloma |
| HP:0000591 | Abnormal sclera morphology |
| HP:0003209 | Decreased pyruvate carboxylase activity |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
| http://purl.obolibrary.org/obo/GO_0140353 | lipid export from cell |
| http://purl.obolibrary.org/obo/GO_0006869 | lipid transport |
| http://purl.obolibrary.org/obo/UBERON_0003389 | mesothelium of diaphragm |
| http://purl.obolibrary.org/obo/UBERON_0003381 | cardiac muscle of right ventricle |
| http://purl.obolibrary.org/obo/UBERON_0003382 | cardiac muscle of left ventricle |
| http://purl.obolibrary.org/obo/UBERON_0018649 | cardiac muscle tissue of ventricle |
| http://purl.obolibrary.org/obo/UBERON_0003383 | cardiac muscle tissue of interventricular septum |
| http://purl.obolibrary.org/obo/UBERON_0004667 | interventricular septum muscular part |
| http://purl.obolibrary.org/obo/UBERON_0004492 | cardiac muscle tissue of cardiac septum |
| http://purl.obolibrary.org/obo/UBERON_0003384 | skeletal muscle tissue of pharynx |
| http://purl.obolibrary.org/obo/UBERON_0004830 | respiratory system skeletal muscle |
| HP:0030848 | Elevated jugular venous pressure |
| HP:0030849 | Hepatojugular reflux |
| http://purl.obolibrary.org/obo/UBERON_0003386 | smooth muscle of eye |
| http://purl.obolibrary.org/obo/UBERON_0003387 | smooth muscle of trachea |
| http://purl.obolibrary.org/obo/UBERON_0004233 | lower respiratory tract smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0004225 | respiratory system smooth muscle |
| http://purl.obolibrary.org/obo/UBERON_0001135 | smooth muscle tissue |
| HP:0005866 | Opposable triphalangeal thumb |
| HP:0001199 | Triphalangeal thumb |
| HP:0009602 | Abnormality of thumb phalanx |
| HP:0001172 | Abnormal thumb morphology |
| HP:0030844 | Undetectable pattern electroretinogram |
| HP:0030467 | Abnormal pattern electroretinogram |
| HP:0000512 | Abnormal electroretinogram |
| HP:0030453 | Abnormal visual electrophysiology |
| HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0005867 | Fused fourth and fifth metacarpals |
| HP:0009707 | Synostosis involving the 4th metacarpal |
| HP:0009701 | Metacarpal synostosis |
| HP:0100265 | Synostosis of metacarpals/metatarsals |
| HP:0004278 | Synostosis involving bones of the hand |
| HP:0100238 | Synostosis involving bones of the upper limbs |
| HP:0010012 | Abnormality of the 4th metacarpal |
| HP:0030845 | Heliotrope rash of eyelid |
| HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0005868 | Metaphyseal enchondromatosis |
| HP:0003207 | Arterial calcification |
| HP:0004934 | Vascular calcification |
| HP:0011915 | Cardiovascular calcification |
| HP:0010766 | Ectopic calcification |
| HP:0030847 | Abnormal jugular venous pressure |
| HP:0003206 | Decreased activity of NADPH oxidase |
| HP:0004358 | Abnormality of superoxide metabolism |
| HP:0003201 | Rhabdomyolysis |
| HP:0030840 | Ankle pain |
| HP:0005863 | Type E brachydactyly |
| HP:0030841 | Toe pain |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0004303 | Abnormal muscle fiber morphology |
| HP:0030842 | Choking episodes |
| HP:0100738 | Abnormal eating behavior |
| HP:0003203 | Impaired oxidative burst |
| HP:0011993 | Impaired neutrophil bactericidal activity |
| HP:0005864 | Pseudoarthrosis |
| HP:0030843 | Cardiac amyloidosis |
| http://purl.obolibrary.org/obo/UBERON_0003380 | cardiac muscle of left atrium |
| http://purl.obolibrary.org/obo/UBERON_0004490 | cardiac muscle tissue of atrium |
| http://purl.obolibrary.org/obo/UBERON_0004493 | cardiac muscle tissue of myocardium |
| http://purl.obolibrary.org/obo/UBERON_0001133 | cardiac muscle tissue |
| HP:0003219 | Ethylmalonic aciduria |
| http://purl.obolibrary.org/obo/HsapDv_0000204 | mature stage |
| http://purl.obolibrary.org/obo/HsapDv_0000000 | human life cycle stage |
| http://purl.obolibrary.org/obo/UBERON_0003393 | mesentery of urinary system |
| HP:0005871 | Metaphyseal chondrodysplasia |
| HP:0100255 | Metaphyseal dysplasia |
| HP:0002652 | Skeletal dysplasia |
| HP:0003210 | Decreased methylmalonyl-CoA mutase activity |
| HP:0000816 | Abnormality of Krebs cycle metabolism |
| http://purl.obolibrary.org/obo/UBERON_0003394 | mesentery of hindgut |
| http://purl.obolibrary.org/obo/UBERON_0003395 | mesentery of rectum |
| HP:0005872 | Brachytelomesophalangy |
| HP:0030837 | Finger pain |
| HP:0046505 | Hand pain |
| http://purl.obolibrary.org/obo/UBERON_0003396 | mesentery of colon |
| HP:0030838 | Hip pain |
| HP:0030839 | Knee pain |
| HP:0012514 | Lower limb pain |
| http://purl.obolibrary.org/obo/UBERON_0003398 | mesentery of jejunum |
| HP:0030833 | Neck pain |
| HP:0046506 | Pain in head and neck region |
| HP:0003216 | Generalized amyloid deposition |
| HP:0011034 | Amyloidosis |
| HP:0005877 | Multiple small vertebral fractures |
| HP:0005878 | Enlarged sagittal diameter of the cervical canal |
| HP:0030834 | Shoulder pain |
| HP:0005879 | Congenital finger flexion contractures |
| HP:0100490 | Camptodactyly of finger |
| HP:0006261 | Abnormal phalangeal joint morphology of the hand |
| HP:0012385 | Camptodactyly |
| HP:0001220 | Interphalangeal joint contracture of finger |
| HP:0012785 | Flexion contracture of finger |
| HP:0009473 | Contracture of hand joint |
| HP:0009810 | Abnormality of upper limb joint |
| HP:0100360 | Contractures of the joints of the upper limbs |
| HP:0002803 | Congenital contracture |
| HP:0030835 | Elbow pain |
| HP:0003218 | Oroticaciduria |
| HP:0030836 | Wrist pain |
| HP:0012513 | Upper limb pain |
| HP:0009763 | Limb pain |
| HP:0003217 | Hyperglutaminemia |
| HP:0010903 | Abnormal circulating glutamine concentration |
| HP:0005873 | Polysyndactyly of hallux |
| HP:0001841 | Preaxial foot polydactyly |
| HP:0001844 | Abnormality of the hallux |
| HP:0100258 | Preaxial polydactyly |
| HP:0003212 | Increased circulating IgE level |
| HP:0410241 | Abnormal circulating IgE level |
| HP:0030830 | Crackles |
| HP:0005875 | Increased dermatoglyphic whorls |
| HP:0001018 | Abnormal palmar dermatoglyphics |
| HP:0007477 | Abnormal dermatoglyphics |
| HP:0030831 | Rhonchi |
| HP:0003214 | Prolonged G2 phase of cell cycle |
| HP:0011018 | Abnormality of the cell cycle |
| http://purl.obolibrary.org/obo/UBERON_0003390 | mesothelium of pleural cavity |
| HP:0005876 | Progressive flexion contractures |
| HP:0030832 | Vitreous strands |
| HP:0100832 | Vitreous floaters |
| HP:0004327 | Abnormal vitreous humor morphology |
| HP:0000504 | Abnormality of vision |
| HP:0012373 | Abnormal eye physiology |
| HP:0003213 | Deficient excision of UV-induced pyrimidine dimers in DNA |
| HP:0003254 | Abnormality of DNA repair |
| http://purl.obolibrary.org/obo/UBERON_0005989 | atrioventricular septum |
| http://purl.obolibrary.org/obo/UBERON_0002099 | cardiac septum |
| http://purl.obolibrary.org/obo/UBERON_0005988 | atrium myocardial trabecula |
| http://purl.obolibrary.org/obo/UBERON_0005985 | coronary vessel |
| HP:0040218 | Reduced natural killer cell count |
| HP:0040219 | Absent natural killer cells |
| HP:0500033 | Abnormal natural killer subset distribution |
| HP:0040089 | Abnormal natural killer cell count |
| HP:0040088 | Abnormal lymphocyte count |
| HP:0012176 | Abnormal natural killer cell morphology |
| http://purl.obolibrary.org/obo/UBERON_0003325 | mesenchyme of pinna |
| HP:0040216 | Hypoinsulinemia |
| http://purl.obolibrary.org/obo/UBERON_0003326 | mesenchyme of mammary gland |
| HP:0040217 | Elevated hemoglobin A1c |
| HP:0011902 | Abnormal hemoglobin |
| http://purl.obolibrary.org/obo/UBERON_0003327 | mesenchyme of forearm |
| http://purl.obolibrary.org/obo/UBERON_0003328 | mesenchyme of footplate |
| http://purl.obolibrary.org/obo/UBERON_0010377 | mesenchyme from somatopleure |
| HP:0040215 | Abnormal circulating insulin level |
| HP:0040214 | Abnormal insulin level |
| http://purl.obolibrary.org/obo/UBERON_0003329 | submucosa of anal canal |
| HP:0040212 | Risus sardonicus |
| HP:0005324 | Disturbance of facial expression |
| HP:0005346 | Abnormal facial expression |
| HP:0040213 | Hypopnea |
| HP:0040210 | Abnormal circulating biopterin concentration |
| HP:0040211 | Abnormal skin morphology of the palm |
| HP:0100871 | Abnormality of the palm |
| HP:0011356 | Regional abnormality of skin |
| http://purl.obolibrary.org/obo/GO_0032592 | integral component of mitochondrial membrane |
| http://purl.obolibrary.org/obo/GO_0031301 | integral component of organelle membrane |
| http://purl.obolibrary.org/obo/GO_0016021 | integral component of membrane |
| http://purl.obolibrary.org/obo/GO_0098573 | intrinsic component of mitochondrial membrane |
| http://purl.obolibrary.org/obo/GO_0031300 | intrinsic component of organelle membrane |
| http://purl.obolibrary.org/obo/GO_0031224 | intrinsic component of membrane |
| http://purl.obolibrary.org/obo/UBERON_0003320 | mesenchyme of hip |
| http://purl.obolibrary.org/obo/UBERON_0003321 | mesenchyme of knee |
| http://purl.obolibrary.org/obo/UBERON_0003860 | hindlimb mesenchyme |
| http://purl.obolibrary.org/obo/GO_0032594 | protein transport within lipid bilayer |
| http://purl.obolibrary.org/obo/GO_0051668 | localization within membrane |
| http://purl.obolibrary.org/obo/GO_0006886 | intracellular protein transport |
| http://purl.obolibrary.org/obo/GO_0015031 | protein transport |
| http://purl.obolibrary.org/obo/GO_0045184 | establishment of protein localization |
| http://purl.obolibrary.org/obo/GO_0008104 | protein localization |
| http://purl.obolibrary.org/obo/GO_0033036 | macromolecule localization |
| http://purl.obolibrary.org/obo/GO_0046907 | intracellular transport |
| http://purl.obolibrary.org/obo/GO_0051649 | establishment of localization in cell |
| http://purl.obolibrary.org/obo/GO_0051641 | cellular localization |
| http://purl.obolibrary.org/obo/GO_0061024 | membrane organization |
| http://purl.obolibrary.org/obo/UBERON_0003322 | mesenchyme of shoulder |
| http://purl.obolibrary.org/obo/CHEBI_36544 | sialodiosylceramide |
| http://purl.obolibrary.org/obo/CHEBI_28892 | ganglioside |
| HP:0030891 | Periventricular white matter hyperdensities |
| HP:0030892 | Deep cerebral white matter hyperdensities |
| HP:0030894 | Insufficient response to short acting pulmonary vasodilator |
| HP:0030893 | Abnormal response to short acting pulmonary vasodilator |
| http://purl.obolibrary.org/obo/UBERON_0005998 | tricuspid valve cusp |
| http://purl.obolibrary.org/obo/UBERON_0005484 | tricuspid valve leaflet |
| http://purl.obolibrary.org/obo/UBERON_0011741 | cardiac valve leaflet |
| http://purl.obolibrary.org/obo/UBERON_0005997 | tricuspid valve anulus |
| http://purl.obolibrary.org/obo/UBERON_0005996 | mitral valve cusp |
| http://purl.obolibrary.org/obo/UBERON_0003334 | serosa of rectum |
| HP:0040229 | Decreased level of thrombomodulin |
| http://purl.obolibrary.org/obo/UBERON_0003335 | serosa of colon |
| http://purl.obolibrary.org/obo/UBERON_0001209 | serosa of large intestine |
| HP:0040227 | Decreased level of histidine-rich glycoprotein |
| http://purl.obolibrary.org/obo/UBERON_0003337 | serosa of jejunum |
| HP:0040228 | Decreased level of plasminogen |
| HP:0032312 | Decreased circulating globulin level |
| HP:0032179 | Abnormal circulating globulin level |
| http://purl.obolibrary.org/obo/UBERON_0003338 | ganglion of peripheral nervous system |
| HP:0040225 | Decrease in high molecular weight von Willebrand factor Multimers |
| HP:0030131 | Abnormal von Willebrand factor multimer distribution |
| http://purl.obolibrary.org/obo/UBERON_0003339 | ganglion of central nervous system |
| http://purl.obolibrary.org/obo/UBERON_0000045 | ganglion |
| http://purl.obolibrary.org/obo/UBERON_0010001 | cell cluster organ |
| http://purl.obolibrary.org/obo/UBERON_0034922 | cell cluster |
| HP:0040226 | Decreased level of heparin co-factor II |
| HP:0040223 | Pulmonary hemorrhage |
| HP:0040221 | Hypoplasia of the dental root |
| HP:0040222 | Maternal thrombophilia |
| HP:0002686 | Prenatal maternal abnormality |
| HP:0040220 | Abnormal size of the dental root |
| HP:0006486 | Abnormality of the dental root |
| HP:0006482 | Abnormality of dental morphology |
| http://purl.obolibrary.org/obo/UBERON_0003330 | submucosa of rectum |
| http://purl.obolibrary.org/obo/UBERON_0003331 | submucosa of colon |
| http://purl.obolibrary.org/obo/UBERON_0001208 | submucosa of large intestine |
| http://purl.obolibrary.org/obo/UBERON_0003332 | submucosa of duodenum |
| http://purl.obolibrary.org/obo/UBERON_0003333 | submucosa of jejunum |
| http://purl.obolibrary.org/obo/UBERON_0001205 | submucosa of small intestine |
| http://purl.obolibrary.org/obo/UBERON_0009566 | intestinal submucosa |
| http://purl.obolibrary.org/obo/UBERON_0018257 | submucosa of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0000009 | submucosa |
| http://purl.obolibrary.org/obo/UBERON_0005995 | mitral valve anulus |
| HP:0030899 | Pruritis on hand |
| http://purl.obolibrary.org/obo/UBERON_0005994 | chorda tendineae |
| http://purl.obolibrary.org/obo/UBERON_0005983 | heart layer |
| http://purl.obolibrary.org/obo/UBERON_0005993 | pulmonary valve anulus |
| http://purl.obolibrary.org/obo/UBERON_0005992 | pulmonary valve cusp |
| http://purl.obolibrary.org/obo/UBERON_0005991 | aortic valve anulus |
| http://purl.obolibrary.org/obo/UBERON_0006008 | fibrous ring of heart |
| http://purl.obolibrary.org/obo/UBERON_0006444 | annulus fibrosus |
| http://purl.obolibrary.org/obo/UBERON_0001995 | fibrocartilage |
| http://purl.obolibrary.org/obo/UBERON_0002418 | cartilage tissue |
| http://purl.obolibrary.org/obo/UBERON_0005990 | aortic valve cusp |
| http://purl.obolibrary.org/obo/UBERON_0006009 | cusp of cardiac valve |
| HP:0030897 | Decreased intestinal transit time |
| HP:0030896 | Abnormal gastrointestinal transit time |
| HP:0030898 | Pruritis on abdomen |
| HP:0030880 | Raynaud phenomenon |
| HP:0030881 | Shoulder impingement |
| HP:0003043 | Abnormality of the shoulder |
| http://purl.obolibrary.org/obo/PR_000048798 | PR:000048798 located_in GO:0005789 |
| http://purl.obolibrary.org/obo/PR_000018628 | urokinase plasminogen activator surface receptor, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_Q03405 | urokinase plasminogen activator surface receptor (human) |
| http://purl.obolibrary.org/obo/PR_000001969 | urokinase plasminogen activator surface receptor |
| HP:0030882 | Coronary artery aneurysm |
| HP:0006704 | Abnormal coronary artery morphology |
| HP:0011004 | Abnormal systemic arterial morphology |
| HP:0030883 | Femoroacetabular impingement |
| http://purl.obolibrary.org/obo/UBERON_0003346 | mucosa of rectum |
| http://purl.obolibrary.org/obo/CHEBI_24583 | hexitol |
| http://purl.obolibrary.org/obo/CHEBI_17522 | alditol |
| http://purl.obolibrary.org/obo/CHEBI_16646 | carbohydrate |
| http://purl.obolibrary.org/obo/CHEBI_26191 | polyol |
| http://purl.obolibrary.org/obo/UBERON_0003342 | mucosa of anal canal |
| http://purl.obolibrary.org/obo/UBERON_0001207 | mucosa of large intestine |
| http://purl.obolibrary.org/obo/UBERON_0001242 | intestinal mucosa |
| http://purl.obolibrary.org/obo/UBERON_0004786 | gastrointestinal system mucosa |
| http://purl.obolibrary.org/obo/UBERON_0003343 | mucosa of oral region |
| http://purl.obolibrary.org/obo/UBERON_0003729 | mouth mucosa |
| http://purl.obolibrary.org/obo/UBERON_0000344 | mucosa |
| HP:0030888 | C3 nephritic factor positivity |
| HP:0030889 | Congenital shortened small intestine |
| http://purl.obolibrary.org/obo/UBERON_0015329 | respiratory system basement membrane |
| HP:0030884 | Gastrojejunal tube feeding in infancy |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0030885 | Recurrent parasitic infections |
| HP:0020108 | Unusual parasitic infection |
| HP:0030887 | Increased lymphocyte apoptosis |
| HP:0030886 | Abnormal lymphocyte apoptosis |
| HP:0030871 | Facet joint arthrosis |
| HP:0030870 | Abnormality of spinal facet joint |
| HP:0030872 | Abnormal cardiac ventricular function |
| HP:0040209 | Decreased CSF biopterin level |
| http://purl.obolibrary.org/obo/UBERON_0003356 | epithelium of nasal septum |
| http://purl.obolibrary.org/obo/UBERON_0019306 | nose epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003357 | epithelium of tongue |
| HP:0040208 | Elevated CSF biopterin level |
| HP:0040207 | Abnormal CSF biopterin level |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11763 | TFRC (human) |
| http://purl.obolibrary.org/obo/UBERON_0003358 | epithelium of soft palate |
| HP:0040205 | Decreased CSF neopterin level |
| http://purl.obolibrary.org/obo/UBERON_0003359 | epithelium of submandibular gland |
| http://purl.obolibrary.org/obo/UBERON_0004809 | salivary gland epithelium |
| HP:0040206 | Abnormal circulating neopterin concentration |
| http://purl.obolibrary.org/obo/CHEBI_48540 | beta-adrenergic drug |
| http://purl.obolibrary.org/obo/CHEBI_37962 | adrenergic agent |
| HP:0040204 | Elevated CSF neopterin level |
| HP:0040203 | Abnormal CSF neopterin level |
| HP:0040201 | Simultanapraxia |
| HP:0040202 | Abnormal consumption behavior |
| HP:0040200 | Motor impersistence |
| HP:0011443 | Abnormality of coordination |
| http://purl.obolibrary.org/obo/UBERON_0003354 | epithelium of rectum |
| http://purl.obolibrary.org/obo/UBERON_0016885 | epithelium of terminal part of digestive tract |
| http://purl.obolibrary.org/obo/UBERON_0001278 | epithelium of large intestine |
| http://purl.obolibrary.org/obo/UBERON_0001277 | intestinal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003350 | epithelium of mucosa |
| http://purl.obolibrary.org/obo/UBERON_0004808 | gastrointestinal system epithelium |
| HP:0030877 | Reduced FEV1/FVC ratio |
| HP:0032340 | Abnormal spirometry test |
| HP:0006536 | Pulmonary obstruction |
| HP:0030878 | Abnormality on pulmonary function testing |
| HP:0030879 | Interlobular septal thickening on pulmonary HRCT |
| HP:0025389 | Pulmonary interstitial high-resolution computed tomography abnormality |
| HP:0031983 | Abnormal pulmonary thoracic imaging finding |
| HP:0030873 | Anticentromere antibody positivity |
| HP:0030874 | Oxygen desaturation on exertion |
| HP:0012418 | Hypoxemia |
| HP:0030876 | Increased pulmonary capillary wedge pressure |
| http://purl.obolibrary.org/obo/UBERON_0005945 | neurocranial trabecula |
| http://purl.obolibrary.org/obo/UBERON_0000440 | trabecula |
| http://purl.obolibrary.org/obo/UBERON_0003932 | cartilage element of chondrocranium |
| http://purl.obolibrary.org/obo/UBERON_0005944 | axial skeleton plus cranial skeleton |
| HP:0040258 | Hypoplastic nasopharyngeal adenoids |
| HP:0040259 | Aplastic nasopharyngeal adenoids |
| HP:0030813 | Absent tonsils |
| HP:0040256 | Aplastic/Hypoplastic nasopharyngeal adenoids |
| HP:0040254 | Decreased size of the clitoris |
| HP:0003262 | Smooth muscle antibody positivity |
| HP:0040255 | Aplasia/Hypoplasia of the clitoris |
| HP:0003265 | Neonatal hyperbilirubinemia |
| HP:0002904 | Hyperbilirubinemia |
| HP:0003264 | Deficiency of N-acetylglucosamine-1-phosphotransferase |
| HP:0004356 | Abnormality of lysosomal metabolism |
| HP:0040253 | Increased size of the clitoris |
| HP:0040252 | Abnormal size of the clitoris |
| HP:0040250 | Reduced prothrombin antigen |
| HP:0040251 | Hand dimple |
| HP:0010781 | Skin dimple |
| HP:0011355 | Localized skin lesion |
| HP:0003261 | Increased circulating IgA level |
| HP:0003260 | Hydroxyprolinemia |
| HP:0010907 | Abnormal circulating proline concentration |
| HP:0003267 | Reduced orotidine 5-prime phosphate decarboxylase level |
| HP:0003269 | Sudanophilic leukodystrophy |
| HP:0002415 | Leukodystrophy |
| HP:0003268 | Argininuria |
| http://purl.obolibrary.org/obo/UBERON_0005956 | outflow part of left ventricle |
| http://purl.obolibrary.org/obo/UBERON_0005953 | outflow part of right ventricle |
| http://purl.obolibrary.org/obo/UBERON_0005337 | outflow tract of ventricle |
| HP:0040269 | Blocked Eustachian tube |
| HP:0040115 | Abnormality of the Eustachian tube |
| http://purl.obolibrary.org/obo/CHEBI_24599 | histidine derivative |
| http://purl.obolibrary.org/obo/CHEBI_83821 | amino acid derivative |
| HP:0040267 | Distal upper limb muscle hypertrophy |
| HP:0040268 | Recurrent infections of the middle ear |
| HP:0002719 | Recurrent infections |
| HP:0032101 | Unusual infection |
| HP:0003274 | Hypoplastic acetabulae |
| HP:0003170 | Abnormality of the acetabulum |
| HP:0001384 | Abnormality of the hip joint |
| HP:0009816 | Lower limb undergrowth |
| HP:0006493 | Aplasia/hypoplasia involving bones of the lower limbs |
| HP:0003273 | Hip contracture |
| HP:0008800 | Limited hip movement |
| HP:0001376 | Limitation of joint mobility |
| HP:0040266 | Proximal upper limb muscle hypertrophy |
| HP:0040265 | Upper limb muscle hypertrophy |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0003276 | Pelvic bone exostoses |
| HP:0100777 | Exostoses |
| HP:0010622 | Neoplasm of the skeletal system |
| HP:0040263 | Jaw ankylosis |
| HP:0003275 | Narrow pelvis bone |
| http://purl.obolibrary.org/obo/CHEBI_48560 | dopaminergic agent |
| HP:0040264 | Jaw pain |
| HP:0003270 | Abdominal distention |
| HP:0040261 | Increased size of nasopharyngeal adenoids |
| HP:0030812 | Enlarged tonsils |
| HP:0040262 | Glue ear |
| HP:0000370 | Abnormality of the middle ear |
| HP:0003271 | Visceromegaly |
| HP:0001438 | Abnormality of abdomen morphology |
| HP:0040260 | Decreased size of nasopharyngeal adenoids |
| HP:0040257 | Abnormal size of nasopharyngeal adenoids |
| HP:3000033 | Abnormality of nasopharyngeal adenoids |
| HP:0001739 | Abnormality of the nasopharynx |
| HP:0100765 | Abnormality of the tonsils |
| HP:0000600 | Abnormality of the pharynx |
| HP:0003278 | Square pelvis bone |
| HP:0003277 | Constricted iliac wings |
| HP:0011867 | Abnormality of the wing of the ilium |
| HP:0002867 | Abnormality of the ilium |
| HP:0003279 | Coxa magna |
| http://purl.obolibrary.org/obo/UBERON_0005969 | eye trabecular meshwork |
| http://purl.obolibrary.org/obo/UBERON_0005966 | outflow part of left atrium |
| http://purl.obolibrary.org/obo/UBERON_0005965 | outflow part of right atrium |
| http://purl.obolibrary.org/obo/UBERON_0005946 | outflow tract of atrium |
| http://purl.obolibrary.org/obo/UBERON_0004145 | outflow tract |
| http://purl.obolibrary.org/obo/UBERON_0003301 | roof plate of diencephalon |
| http://purl.obolibrary.org/obo/CHEBI_48578 | radical scavenger |
| http://purl.obolibrary.org/obo/CHEBI_22586 | antioxidant |
| http://purl.obolibrary.org/obo/CHEBI_51086 | chemical role |
| http://purl.obolibrary.org/obo/UBERON_0003302 | roof plate of metencephalon |
| http://purl.obolibrary.org/obo/UBERON_0003303 | roof plate of medulla oblongata |
| HP:0040238 | Impaired neutrophil chemotaxis |
| HP:0005400 | Reduction of neutrophil motility |
| HP:0011990 | Abnormality of neutrophil physiology |
| http://purl.obolibrary.org/obo/CHEBI_73558 | D3 vitamins |
| http://purl.obolibrary.org/obo/CHEBI_27300 | vitamin D |
| http://purl.obolibrary.org/obo/UBERON_0003304 | mesoderm blood island |
| http://purl.obolibrary.org/obo/UBERON_0007503 | epithelial vesicle |
| http://purl.obolibrary.org/obo/UBERON_0003061 | blood island |
| HP:0040239 | Increased plasma vitamin K epoxide after vitamin K supplementation |
| HP:0040236 | Hyperfibrinolysis |
| HP:0040237 | Impaired binding of factor VIII to VWF |
| HP:0040234 | Factor XIII subunit B deficiency |
| HP:0040235 | Leukocyte inclusion bodies |
| HP:0008264 | Neutrophil inclusion bodies |
| HP:0011992 | Abnormality of neutrophil morphology |
| HP:0040232 | Delayed onset bleeding |
| HP:0040233 | Factor XIII subunit A deficiency |
| HP:0008357 | Reduced factor XIII activity |
| HP:0040230 | Decreased level of tissue plasminogen activator |
| HP:0003286 | Cystathioninemia |
| HP:0004339 | Abnormal circulating sulfur amino acid concentration |
| HP:0040231 | Abnormal onset of bleeding |
| HP:0003281 | Increased serum ferritin |
| HP:0040133 | Abnormal serum ferritin |
| HP:0003282 | Low alkaline phosphatase |
| HP:0004379 | Abnormality of alkaline phosphatase level |
| http://purl.obolibrary.org/obo/UBERON_0003300 | roof plate of telencephalon |
| HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect |
| http://purl.obolibrary.org/obo/UBERON_0005979 | crista terminalis |
| http://purl.obolibrary.org/obo/UBERON_0003312 | mesenchyme of testis |
| http://purl.obolibrary.org/obo/UBERON_0003314 | eye mesenchyme |
| HP:0040249 | Reduced plasminogen activator inhibitor 1 antigen |
| http://purl.obolibrary.org/obo/UBERON_0003315 | mesenchyme of ovary |
| http://purl.obolibrary.org/obo/UBERON_0003855 | gonad mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003316 | mesenchyme of yolk sac |
| HP:0040247 | Reduced euglobulin clot lysis time |
| http://purl.obolibrary.org/obo/CHEBI_73541 | organic heterobicyclic ring |
| http://purl.obolibrary.org/obo/CHEBI_52845 | cyclic organic group |
| HP:0040248 | Reduced plasminogen activator inhibitor 1 activity |
| http://purl.obolibrary.org/obo/UBERON_0003318 | mesenchyme of elbow |
| HP:0040245 | Reduced alpha-2-antiplasmin activity |
| http://purl.obolibrary.org/obo/UBERON_0003319 | mesenchyme of carpal region |
| http://purl.obolibrary.org/obo/UBERON_0003859 | forelimb mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0009749 | limb mesenchyme |
| HP:0040246 | Reduced antithrombin antigen |
| HP:0040243 | Prolonged euglobulin clot lysis time |
| HP:0040224 | Abnormality of fibrinolysis |
| HP:0003296 | Hyperthreoninuria |
| HP:0040244 | Prolonged Russell's viper venom time |
| HP:0010990 | Abnormality of the common coagulation pathway |
| HP:0003298 | Spina bifida occulta |
| HP:0002414 | Spina bifida |
| HP:0010301 | Spinal dysraphism |
| HP:0008438 | Vertebral arch anomaly |
| HP:0045005 | Neural tube defect |
| HP:0040241 | Increased RIPA |
| HP:0030402 | Abnormal platelet aggregation |
| HP:0011869 | Abnormal platelet function |
| HP:0003297 | Hyperlysinuria |
| HP:0008339 | Diaminoaciduria |
| HP:0040242 | Muscle hemorrhage |
| HP:0003292 | Decreased serum leptin |
| HP:0004361 | Abnormality of circulating leptin level |
| HP:0040240 | Increased ratio of VWF propeptide to VWF antigen |
| HP:0012146 | Abnormality of von Willebrand factor |
| http://purl.obolibrary.org/obo/UBERON_0005971 | amniotic fold |
| http://purl.obolibrary.org/obo/UBERON_0005970 | brain commissure |
| http://purl.obolibrary.org/obo/UBERON_0007702 | tract of brain |
| http://purl.obolibrary.org/obo/UBERON_0001020 | nervous system commissure |
| http://purl.obolibrary.org/obo/UBERON_0001018 | axon tract |
| http://purl.obolibrary.org/obo/GO_0032504 | multicellular organism reproduction |
| http://purl.obolibrary.org/obo/GO_0000003 | reproduction |
| http://purl.obolibrary.org/obo/UBERON_0005903 | duct of seminal vesicle |
| http://purl.obolibrary.org/obo/UBERON_0005904 | duct of male reproductive system |
| http://purl.obolibrary.org/obo/UBERON_0000058 | duct |
| http://purl.obolibrary.org/obo/UBERON_0000063 | organ subunit |
| http://purl.obolibrary.org/obo/UBERON_0005902 | occipital region |
| http://purl.obolibrary.org/obo/PR_000009127 | integrin alpha-IIb |
| http://purl.obolibrary.org/obo/PR_000025797 | integrin alpha lacking A domain |
| http://purl.obolibrary.org/obo/PR_000025796 | integrin alpha |
| http://purl.obolibrary.org/obo/UBERON_0005908 | conjunctival sac |
| http://purl.obolibrary.org/obo/UBERON_0005906 | serous sac |
| HP:0040179 | Decreased level of platelet-activating factor |
| HP:0040178 | Increased level of platelet-activating factor |
| HP:0040177 | Abnormal level of platelet-activating factor |
| HP:0040175 | Platelet-activating factor acetylhydrolase deficiency |
| HP:0040176 | Abnormal circulating phospholipid concentration |
| HP:0040174 | Abnormality of extrinsic muscle of tongue |
| HP:0040173 | Abnormality of the tongue muscle |
| HP:0040171 | Decreased serum testosterone level |
| HP:0030349 | Decreased circulating androgen level |
| HP:0030087 | Abnormal serum testosterone level |
| HP:0008373 | Puberty and gonadal disorders |
| HP:0030347 | Abnormal circulating androgen level |
| HP:0040172 | Abnormality of occipitofrontalis muscle |
| http://purl.obolibrary.org/obo/GO_0007565 | female pregnancy |
| http://purl.obolibrary.org/obo/GO_0007567 | parturition |
| HP:0040188 | Osteochondrosis |
| HP:0100323 | Juvenile aseptic necrosis |
| HP:0010885 | Avascular necrosis |
| HP:0040186 | Maculopapular exanthema |
| HP:0040187 | Neonatal sepsis |
| HP:0100806 | Sepsis |
| HP:0040184 | Oral bleeding |
| HP:0011029 | Internal hemorrhage |
| HP:0011028 | Abnormality of blood circulation |
| HP:0001892 | Abnormal bleeding |
| HP:0031815 | Abnormal oral physiology |
| HP:0040185 | Macrothrombocytopenia |
| HP:0001873 | Thrombocytopenia |
| HP:0011873 | Abnormal platelet count |
| HP:0011877 | Increased mean platelet volume |
| HP:0011876 | Abnormal platelet volume |
| HP:0011875 | Abnormal platelet morphology |
| HP:0001872 | Abnormal thrombocyte morphology |
| HP:0040182 | Inappropriate sinus tachycardia |
| HP:0011703 | Sinus tachycardia |
| HP:0011702 | Abnormal electrophysiology of sinoatrial node origin |
| HP:0011675 | Arrhythmia |
| HP:0040183 | Encopresis |
| HP:0002607 | Bowel incontinence |
| HP:0012700 | Abnormal large intestine physiology |
| HP:0031064 | Impaired continence |
| HP:0031058 | Impairment of activities of daily living |
| HP:0040180 | Hyperkeratosis pilaris |
| HP:0000962 | Hyperkeratosis |
| HP:0040181 | Chapped lip |
| http://purl.obolibrary.org/obo/GO_0007596 | blood coagulation |
| http://purl.obolibrary.org/obo/GO_0050817 | coagulation |
| http://purl.obolibrary.org/obo/GO_0007598 | blood coagulation, extrinsic pathway |
| http://purl.obolibrary.org/obo/GO_0007597 | blood coagulation, intrinsic pathway |
| http://purl.obolibrary.org/obo/GO_0072376 | protein activation cascade |
| HP:0040159 | Abnormal spaced incisors |
| HP:0011062 | Misalignment of incisors |
| HP:0000676 | Abnormality of the incisor |
| HP:0000692 | Misalignment of teeth |
| HP:0000164 | Abnormality of the dentition |
| http://purl.obolibrary.org/obo/GO_0007599 | hemostasis |
| http://purl.obolibrary.org/obo/CHEBI_24500 | heparan |
| http://purl.obolibrary.org/obo/CHEBI_18085 | glycosaminoglycan |
| http://purl.obolibrary.org/obo/CHEBI_22506 | aminoglycan |
| http://purl.obolibrary.org/obo/CHEBI_65212 | polysaccharide derivative |
| http://purl.obolibrary.org/obo/UBERON_0005928 | external naris |
| http://purl.obolibrary.org/obo/UBERON_0000003 | naris |
| http://purl.obolibrary.org/obo/UBERON_0000161 | orifice |
| HP:0040158 | Short intermamillary distance |
| HP:0040157 | Abnormal intermamillary distance |
| HP:0004404 | Abnormal nipple morphology |
| HP:0031093 | Abnormal breast morphology |
| HP:0000769 | Abnormality of the breast |
| HP:0040155 | Elevated urinary 3-hydroxybutyric acid |
| HP:0040154 | Acne inversa |
| HP:0001061 | Acne |
| HP:0040151 | Epiblepharon of lower lid |
| HP:0040150 | Epiblepharon of upper lid |
| HP:0011225 | Epiblepharon |
| http://purl.obolibrary.org/obo/GO_0007585 | respiratory gaseous exchange by respiratory system |
| http://purl.obolibrary.org/obo/GO_0007586 | digestion |
| http://purl.obolibrary.org/obo/GO_0007589 | body fluid secretion |
| http://purl.obolibrary.org/obo/GO_0007588 | excretion |
| http://purl.obolibrary.org/obo/GO_0003008 | system process |
| HP:0040168 | Focal seizures, afebril |
| HP:0007359 | Focal-onset seizure |
| HP:0001250 | Seizure |
| HP:0040169 | Loose anagen hair |
| HP:0040170 | Abnormality of hair growth |
| HP:0040167 | Facial papilloma |
| HP:0012740 | Papilloma |
| HP:0008069 | Neoplasm of the skin |
| HP:0011799 | Abnormality of facial soft tissue |
| HP:0040164 | Lipomas of eyelids |
| HP:0012032 | Lipoma |
| HP:0012031 | Lipomatous tumor |
| HP:0200013 | Neoplasm of fatty tissue |
| HP:0040165 | Periostitis |
| HP:0002754 | Osteomyelitis |
| HP:0030313 | Abnormal periosteum morphology |
| HP:0040166 | Abnormality of the periosteum |
| HP:0040162 | Orthokeratosis |
| HP:0011368 | Epidermal thickening |
| HP:0001072 | Skin thickening |
| HP:0040163 | Abnormal pelvis bone morphology |
| HP:0040160 | Generalized osteoporosis |
| HP:0040161 | Localized osteoporosis |
| HP:0000939 | Osteoporosis |
| HP:0004349 | Reduced bone mineral density |
| HP:0004348 | Abnormality of bone mineral density |
| http://purl.obolibrary.org/obo/GO_0032543 | mitochondrial translation |
| http://purl.obolibrary.org/obo/GO_0006412 | translation |
| http://purl.obolibrary.org/obo/GO_0043043 | peptide biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0043604 | amide biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0044271 | cellular nitrogen compound biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0006518 | peptide metabolic process |
| http://purl.obolibrary.org/obo/GO_0043603 | cellular amide metabolic process |
| http://purl.obolibrary.org/obo/GO_0034641 | cellular nitrogen compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0044267 | cellular protein metabolic process |
| http://purl.obolibrary.org/obo/GO_0019538 | protein metabolic process |
| http://purl.obolibrary.org/obo/GO_0034645 | cellular macromolecule biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0044260 | cellular macromolecule metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_36508 | glycotriaosylceramide |
| HP:0040197 | Encephalomalacia |
| HP:0040198 | Non-medullary thyroid carcinoma |
| HP:0002890 | Thyroid carcinoma |
| HP:0100031 | Neoplasm of the thyroid gland |
| http://purl.obolibrary.org/obo/CHEBI_36526 | acidic glycosphingolipid |
| HP:0040196 | Mild microcephaly |
| HP:0040195 | Decreased head circumference |
| HP:0040194 | Increased head circumference |
| HP:0000240 | Abnormality of skull size |
| HP:0040191 | Rectus femoris muscle atrophy |
| HP:0009050 | Quadriceps muscle atrophy |
| HP:0008956 | Proximal lower limb amyotrophy |
| HP:0007126 | Proximal amyotrophy |
| HP:0001441 | Abnormality of the musculature of the thigh |
| HP:0001437 | Abnormality of the musculature of the lower limbs |
| HP:0040192 | APUdoma |
| HP:0040190 | White scaling skin |
| HP:0040189 | Scaling skin |
| HP:0011124 | Abnormality of epidermal morphology |
| http://purl.obolibrary.org/obo/PR_000009143 | integrin beta-7 |
| http://purl.obolibrary.org/obo/PR_000001861 | integrin beta |
| http://purl.obolibrary.org/obo/CHEBI_36520 | oligoglycosylceramide |
| http://purl.obolibrary.org/obo/CHEBI_17761 | ceramide |
| http://purl.obolibrary.org/obo/CHEBI_25513 | neutral glycosphingolipid |
| http://purl.obolibrary.org/obo/CHEBI_24402 | glycosphingolipid |
| http://purl.obolibrary.org/obo/CHEBI_26739 | sphingolipid |
| http://purl.obolibrary.org/obo/CHEBI_33563 | glycolipid |
| http://purl.obolibrary.org/obo/CHEBI_35740 | liposaccharide |
| http://purl.obolibrary.org/obo/CHEBI_63299 | carbohydrate derivative |
| http://purl.obolibrary.org/obo/CHEBI_78616 | carbohydrates and carbohydrate derivatives |
| http://purl.obolibrary.org/obo/CHEBI_24533 | heterodetic cyclic peptide |
| http://purl.obolibrary.org/obo/CHEBI_23449 | cyclic peptide |
| HP:0005807 | Absent distal phalanges |
| HP:0009835 | Aplasia/Hypoplasia of the distal phalanges of the hand |
| HP:0009832 | Abnormal distal phalanx morphology of finger |
| http://purl.obolibrary.org/obo/PR_Q9NPY3 | complement component C1q receptor (human) |
| http://purl.obolibrary.org/obo/PR_000002037 | complement component C1q receptor |
| http://purl.obolibrary.org/obo/PR_000001938 | thrombomodulin-like receptor |
| HP:0005802 | Coalescence of tarsal bones |
| HP:0008368 | Tarsal synostosis |
| HP:0001850 | Abnormality of the tarsal bones |
| HP:0003028 | Abnormality of the ankles |
| HP:0100266 | Synostosis of carpals/tarsals |
| HP:0009140 | Synostosis involving bones of the feet |
| HP:0005819 | Short middle phalanx of finger |
| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand |
| HP:0003026 | Short long bone |
| HP:0009803 | Short phalanx of finger |
| HP:0009824 | Upper limb undergrowth |
| HP:0009826 | Limb undergrowth |
| HP:0009767 | Aplasia/Hypoplasia of the phalanges of the hand |
| HP:0009381 | Short finger |
| HP:0006265 | Aplasia/Hypoplasia of fingers |
| http://purl.obolibrary.org/obo/PR_P00797-1 | renin isoform 1 (human) |
| http://purl.obolibrary.org/obo/PR_000050221 | renin isoform 1 |
| http://purl.obolibrary.org/obo/PR_000050224 | renin isoform b (human) |
| http://purl.obolibrary.org/obo/PR_P00797 | renin (human) |
| http://purl.obolibrary.org/obo/PR_000013883 | renin |
| http://purl.obolibrary.org/obo/PR_000050025 | angiotensinogenase |
| HP:0005815 | Supernumerary ribs |
| HP:0009144 | Supernumerary bones of the axial skeleton |
| HP:0005817 | Postaxial polysyndactyly of foot |
| HP:0001830 | Postaxial foot polydactyly |
| HP:0010322 | Abnormality of the 5th toe |
| HP:0001829 | Foot polydactyly |
| HP:0009136 | Duplication involving bones of the feet |
| HP:0100259 | Postaxial polydactyly |
| HP:0010442 | Polydactyly |
| HP:0410075 | Increased level of xylitol in CSF |
| HP:0410072 | Increased level of ribose in urine |
| HP:0410071 | Increased level of ribitol in CSF |
| HP:0410074 | Increased level of xylitol in urine |
| HP:0410073 | Increased level of ribose in CSF |
| HP:0005828 | Transient pulmonary infiltrates |
| HP:0002113 | Pulmonary infiltrates |
| HP:0005829 | Maldevelopment of radioulnar joint |
| HP:0003059 | Abnormality of the radioulnar joints |
| HP:0002973 | Abnormality of the forearm |
| HP:0005262 | Abnormality of the synovia |
| http://purl.obolibrary.org/obo/GO_0007507 | heart development |
| HP:0005824 | Clinodactyly of the 2nd toe |
| HP:0001863 | Toe clinodactyly |
| HP:0030084 | Clinodactyly |
| HP:0010326 | Deviation of the 2nd toe |
| HP:0100498 | Deviation of toes |
| HP:0010319 | Abnormality of the 2nd toe |
| HP:0005825 | Mixed sclerosis of humeral metaphyses |
| HP:0004979 | Metaphyseal sclerosis |
| HP:0003918 | Sclerotic humeral metaphysis |
| HP:0003907 | Abnormality of the humeral metaphyses |
| HP:0003063 | Abnormality of the humerus |
| HP:0001454 | Abnormality of the upper arm |
| HP:0005820 | Superior rib anomalies |
| HP:0000772 | Abnormality of the ribs |
| HP:0001547 | Abnormality of the rib cage |
| HP:0005830 | Flexion contracture of toe |
| HP:0100492 | Joint contractures involving the joints of the feet |
| HP:0008366 | Contractures involving the joints of the feet |
| HP:0005750 | Contractures of the joints of the lower limbs |
| HP:0003121 | Limb joint contracture |
| HP:0030044 | Flexion contracture of digit |
| HP:0001780 | Abnormality of toe |
| HP:0001760 | Abnormality of the foot |
| HP:0005831 | Type B brachydactyly |
| HP:0001156 | Brachydactyly |
| HP:0011927 | Short digit |
| HP:0005832 | Dysharmonic delayed bone age |
| HP:0200000 | Dysharmonic bone age |
| HP:0002750 | Delayed skeletal maturation |
| HP:0000927 | Abnormality of skeletal maturation |
| HP:0410043 | Abnormal neural tube morphology |
| HP:0410042 | Abnormal liver morphology |
| HP:0410049 | Abnormality of radial ray |
| HP:0410031 | Submucous cleft of soft and hard palate |
| HP:0410034 | Bilateral alveolar cleft of maxilla |
| http://purl.obolibrary.org/obo/GO_0007517 | muscle organ development |
| http://purl.obolibrary.org/obo/GO_0048513 | animal organ development |
| http://purl.obolibrary.org/obo/GO_0061061 | muscle structure development |
| HP:0410033 | Unilateral alveolar cleft of maxilla |
| HP:0010289 | Cleft of alveolar ridge of maxilla |
| HP:0410005 | Cleft hard palate |
| HP:0000175 | Cleft palate |
| HP:0100737 | Abnormal hard palate morphology |
| HP:0000174 | Abnormal palate morphology |
| HP:0011338 | Abnormality of mouth shape |
| HP:0006477 | Abnormality of the alveolar ridges |
| HP:0002648 | Abnormality of calvarial morphology |
| HP:0002683 | Abnormality of the calvaria |
| HP:0410030 | Cleft lip |
| HP:0000202 | Oral cleft |
| HP:0410035 | Abnormal T cell activation |
| HP:0011840 | Abnormality of T cell physiology |
| HP:0410070 | Increased level of ribitol in urine |
| HP:0410065 | Increased level of hippuric acid in blood |
| http://purl.obolibrary.org/obo/GO_0007548 | sex differentiation |
| http://purl.obolibrary.org/obo/GO_0003006 | developmental process involved in reproduction |
| HP:0410064 | Increased level of galactitol in red blood cells |
| HP:0410067 | Increased level of L-fucose in urine |
| HP:0410066 | Increased level of hippuric acid in urine |
| HP:0012073 | Abnormal urinary acylglycine profile |
| HP:0410061 | Increased level of galactitol in plasma |
| HP:0410060 | Decreased level of D-mannose in urine |
| HP:0410063 | Increased level of galactonate in red blood cells |
| HP:0410062 | Increased level of galactitol in urine |
| HP:0410069 | Increased level of propylene glycol in blood |
| HP:0410068 | Increased level of L-glutamic acid in blood |
| HP:0500148 | Abnormal circulating glutamate concentration |
| HP:0410054 | Decreased level of GABA in serum |
| http://zfin.org/action/marker/view/ZDB-GENE-041001-112 | kdr (zebrafish) |
| HP:0410053 | Increased level of GABA in serum |
| HP:0410056 | Decreased level of erythritol in CSF |
| HP:0410055 | Decreased level of erythritol in urine |
| HP:0410050 | Decreased level of 1,5 anhydroglucitol in serum |
| HP:0410052 | Increased level of allantoin in serum |
| HP:0410051 | Increased level of 3-hydroxy-3-methylglutaric acid in urine |
| HP:0410058 | Increased level of D-threitol in CSF |
| HP:0025454 | Abnormal CSF metabolite level |
| HP:0032207 | Abnormal cerebrospinal fluid metabolite concentration |
| HP:0410057 | Increased level of D-threitol in plasma |
| HP:0410059 | Increased level of D-threitol in urine |
| http://purl.obolibrary.org/obo/UBERON_0003282 | mesentery of heart |
| http://purl.obolibrary.org/obo/UBERON_0003283 | mesentery of oesophagus |
| http://purl.obolibrary.org/obo/UBERON_0001975 | serosa of esophagus |
| HP:0003341 | Junctional split |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0030947 | Conjunctival follicles |
| HP:0030948 | Elevated gamma-glutamyltransferase level |
| HP:0030949 | Glomerular deposits |
| HP:0000095 | Abnormality of renal glomerulus morphology |
| HP:0012575 | Abnormal nephron morphology |
| HP:0031263 | Abnormal renal corpuscle morphology |
| http://purl.obolibrary.org/obo/UBERON_0003288 | meninx of midbrain |
| http://purl.obolibrary.org/obo/UBERON_0003289 | meninx of telencephalon |
| HP:0030943 | Vulvodynia |
| HP:0003348 | Hyperalaninemia |
| HP:0010916 | Abnormal circulating alanine concentration |
| HP:0010915 | Abnormal circulating pyruvate family amino acid concentration |
| HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin |
| HP:0004332 | Abnormal lymphocyte morphology |
| HP:0030946 | Conjunctival papillae |
| HP:0003349 | Low cholesterol esterification rate |
| HP:0003344 | 3-Methylglutaric aciduria |
| HP:0003215 | Dicarboxylic aciduria |
| HP:0003535 | 3-Methylglutaconic aciduria |
| HP:0003287 | Abnormality of mitochondrial metabolism |
| HP:0012103 | Abnormality of the mitochondrion |
| HP:0003343 | Reduced glutathione synthetase level |
| http://purl.obolibrary.org/obo/UBERON_0003281 | mesentery of stomach |
| HP:0003345 | Elevated urinary norepinephrine |
| HP:0011976 | Elevated urinary catecholamines |
| HP:0011281 | Abnormality of urine catecholamine concentration |
| HP:0003351 | Decreased circulating renin level |
| HP:0040084 | Abnormal circulating renin |
| HP:0000847 | Abnormality of renin-angiotensin system |
| http://purl.obolibrary.org/obo/UBERON_0003294 | gland of foregut |
| http://purl.obolibrary.org/obo/UBERON_0003295 | pharyngeal gland |
| http://purl.obolibrary.org/obo/UBERON_0036225 | respiratory system gland |
| http://purl.obolibrary.org/obo/UBERON_0003408 | gland of digestive tract |
| HP:0003353 | Propionyl-CoA carboxylase deficiency |
| http://purl.obolibrary.org/obo/UBERON_0003296 | gland of diencephalon |
| HP:0003352 | Endopolyploidy on chromosome studies of bone marrow |
| HP:0002916 | Abnormality of chromosome segregation |
| HP:0030936 | Abnormal layering of muscularis propria |
| HP:0030937 | Fibrotic muscularis propria |
| HP:0030938 | Enteric intraneuronal nuclear inclusion bodies |
| HP:0025029 | Abnormality of enteric neuron morphology |
| HP:0025028 | Abnormality of enteric nervous system morphology |
| HP:0012331 | Abnormal autonomic nervous system morphology |
| HP:0002270 | Abnormality of the autonomic nervous system |
| HP:0012757 | Abnormal neuron morphology |
| http://purl.obolibrary.org/obo/UBERON_0003299 | roof plate of midbrain |
| HP:0030939 | Palpebral thickening |
| HP:0030932 | 1-minute APGAR score of 5 |
| HP:0003359 | Decreased urinary sulfate |
| HP:0012612 | Abnormal urinary sulfate concentration |
| HP:0030933 | 1-minute APGAR score of 6 |
| HP:0003358 | Elevated intracellular cystine |
| HP:0030934 | Oral erythroplakia |
| HP:0011830 | Abnormal oral mucosa morphology |
| http://purl.obolibrary.org/obo/CHEBI_3992 | cyclic ketone |
| HP:0030935 | Abnormality of intestinal smooth muscle morphology |
| HP:0003354 | Hyperthreoninemia |
| HP:0010900 | Abnormal circulating threonine concentration |
| HP:0010899 | Abnormal circulating aspartate family amino acid concentration |
| http://purl.obolibrary.org/obo/UBERON_0003290 | meninx of diencephalon |
| http://purl.obolibrary.org/obo/UBERON_0003548 | forebrain meninges |
| HP:0003357 | Thymic hormone decreased |
| HP:0000777 | Abnormality of the thymus |
| HP:0100763 | Abnormality of the lymphatic system |
| HP:0030930 | 1-minute APGAR score of 3 |
| http://purl.obolibrary.org/obo/UBERON_0003291 | meninx of hindbrain |
| http://purl.obolibrary.org/obo/UBERON_0003547 | brain meninx |
| http://purl.obolibrary.org/obo/UBERON_0003292 | meninx of spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0005174 | dorsal region element |
| http://purl.obolibrary.org/obo/UBERON_0002360 | meninx |
| http://purl.obolibrary.org/obo/UBERON_0000094 | membrane organ |
| HP:0030931 | 1-minute APGAR score of 4 |
| http://purl.obolibrary.org/obo/UBERON_0015280 | pancreas left lobe |
| http://purl.obolibrary.org/obo/UBERON_0015281 | pancreas right lobe |
| http://purl.obolibrary.org/obo/UBERON_0007324 | pancreatic lobule |
| HP:0030929 | 1-minute APGAR score of 2 |
| HP:0003362 | Increased VLDL cholesterol concentration |
| HP:0010980 | Hyperlipoproteinemia |
| HP:0031889 | Abnormal VLDL cholesterol concentration |
| HP:0010979 | Abnormality of lipoprotein cholesterol concentration |
| HP:0003361 | Tryptophanuria |
| HP:0008353 | Neutral hyperaminoaciduria |
| HP:0003355 | Aminoaciduria |
| HP:0040156 | Elevated urinary carboxylic acid |
| HP:0031980 | Abnormal urine carboxylic acid level |
| HP:0001992 | Organic aciduria |
| HP:0012072 | Aciduria |
| HP:0032943 | Abnormal urine pH |
| HP:0003363 | Abdominal situs inversus |
| HP:0011620 | Abnormality of abdominal situs |
| HP:0030853 | Heterotaxy |
| HP:0030925 | 5-minute APGAR score of 5 |
| HP:0030926 | 5-minute APGAR score of 6 |
| HP:0030927 | 1-minute APGAR score of 0 |
| HP:0030928 | 1-minute APGAR score of 1 |
| HP:0030921 | 5-minute APGAR score of 1 |
| HP:0030922 | 5-minute APGAR score of 2 |
| HP:0030923 | 5-minute APGAR score of 3 |
| HP:0030924 | 5-minute APGAR score of 4 |
| HP:0003365 | Arthralgia of the hip |
| HP:0030920 | 5-minute APGAR score of 0 |
| HP:0003367 | Abnormality of the femoral neck |
| HP:0030918 | Low 1-minute APGAR score |
| HP:0030919 | Low 5-minute APGAR score |
| HP:0003375 | Narrow greater sciatic notch |
| HP:0010456 | Abnormal greater sciatic notch morphology |
| HP:0003174 | Abnormality of the ischium |
| HP:0003272 | Abnormality of the hip bone |
| HP:0002644 | Abnormality of pelvic girdle bone morphology |
| HP:0030914 | Abnormal peristalsis |
| HP:0002579 | Gastrointestinal dysmotility |
| HP:0030895 | Abnormal gastrointestinal motility |
| HP:0012719 | Functional abnormality of the gastrointestinal tract |
| HP:0030915 | Cerebellar edema |
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0003371 | Enlargement of the proximal femoral epiphysis |
| HP:0010580 | Enlarged epiphyses |
| HP:0030917 | Low APGAR score |
| HP:0001197 | Abnormality of prenatal development or birth |
| HP:0003370 | Flat capital femoral epiphysis |
| HP:0010574 | Abnormality of the epiphysis of the femoral head |
| HP:0003368 | Abnormality of the femoral head |
| HP:0006499 | Abnormality of femoral epiphysis |
| HP:0006500 | Abnormality of lower limb epiphysis morphology |
| HP:0030289 | Flattened femoral epiphysis |
| HP:0003071 | Flattened epiphysis |
| HP:0030911 | Bifid clitoris |
| HP:0030912 | Duplicated clitoris |
| HP:0000056 | Abnormality of the clitoris |
| HP:0030913 | Exaggerated rugosity of the labia majora |
| HP:0012881 | Abnormality of the labia majora |
| HP:0000058 | Abnormality of the labia |
| HP:0000055 | Abnormality of female external genitalia |
| HP:0000811 | Abnormal external genitalia |
| HP:0003376 | Steppage gait |
| HP:0001288 | Gait disturbance |
| HP:0003378 | Axonal degeneration/regeneration |
| HP:0030980 | Reduced brain glutamine level by MRS |
| HP:0012705 | Abnormal metabolic brain imaging by MRS |
| HP:0410263 | Brain imaging abnormality |
| http://purl.obolibrary.org/obo/PR_P55284 | cadherin-5 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001444 | cadherin-5 |
| http://purl.obolibrary.org/obo/PR_000001327 | cadherin |
| HP:0003307 | Hyperlordosis |
| HP:0003309 | Ovoid thoracolumbar vertebrae |
| http://purl.obolibrary.org/obo/UBERON_0003247 | epithelium of forearm |
| http://purl.obolibrary.org/obo/UBERON_0003248 | epithelium of footplate |
| http://purl.obolibrary.org/obo/UBERON_0003249 | epithelium of otic placode |
| http://purl.obolibrary.org/obo/NBO_0002519 | adipsia |
| http://purl.obolibrary.org/obo/NBO_0000993 | decreased frequency of drinking |
| http://purl.obolibrary.org/obo/NBO_0000929 | frequency of drinking |
| http://purl.obolibrary.org/obo/NBO_0000133 | liquid preference/aversion |
| http://purl.obolibrary.org/obo/NBO_0000540 | drinking behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000270 | feeding behavior phenotype |
| http://purl.obolibrary.org/obo/NBO_0000243 | behavioral phenotype |
| http://purl.obolibrary.org/obo/UBERON_0003243 | epithelium of cochlear duct |
| http://purl.obolibrary.org/obo/UBERON_0006937 | inner ear epithelium |
| http://purl.obolibrary.org/obo/UBERON_0015807 | ear epithelium |
| http://purl.obolibrary.org/obo/UBERON_0019304 | sensory organ epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003244 | epithelium of mammary gland |
| HP:0003304 | Spondylolysis |
| HP:0030987 | Suppurative cholangitis |
| HP:0030988 | Granulomatous cholangitis |
| http://purl.obolibrary.org/obo/UBERON_0015228 | circulatory organ |
| HP:0005967 | Mixed respiratory and metabolic acidosis |
| HP:0030989 | Lymphoid cholangitis |
| HP:0003306 | Spinal rigidity |
| HP:0005968 | Temperature instability |
| HP:0003305 | Block vertebrae |
| HP:0002948 | Vertebral fusion |
| HP:0005961 | Hypoargininemia |
| HP:0010909 | Abnormal circulating arginine concentration |
| HP:0010902 | Abnormal circulating glutamine family amino acid concentration |
| HP:0004337 | Abnormality of amino acid metabolism |
| HP:0003112 | Abnormality of serum amino acid level |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0030983 | Ovarian thecoma |
| HP:0031918 | Ovarian sex cord-stromal tumor |
| HP:0100615 | Ovarian neoplasm |
| HP:0000137 | Abnormality of the ovary |
| HP:0010785 | Gonadal neoplasm |
| HP:0010787 | Genital neoplasm |
| HP:0007379 | Neoplasm of the genitourinary tract |
| HP:0003302 | Spondylolisthesis |
| HP:0030985 | Decreased serum bile concentration |
| HP:0045014 | Hypolipidemia |
| HP:0030984 | Abnormal serum bile acid concentration |
| HP:0005964 | Intermittent hypothermia |
| HP:0002045 | Hypothermia |
| HP:0004370 | Abnormality of temperature regulation |
| HP:0030986 | Biliary epithelial hyperplasia |
| HP:0003301 | Irregular vertebral endplates |
| HP:0005106 | Abnormality of the vertebral endplates |
| HP:0030970 | Abnormal vena cava physiology |
| http://purl.obolibrary.org/obo/UBERON_0015233 | nucleus of dorsal thalamus |
| http://purl.obolibrary.org/obo/UBERON_0007692 | nucleus of thalamus |
| http://purl.obolibrary.org/obo/UBERON_0006569 | diencephalic nucleus |
| http://purl.obolibrary.org/obo/UBERON_0002308 | nucleus of brain |
| http://purl.obolibrary.org/obo/UBERON_0000125 | neural nucleus |
| HP:0003318 | Cervical spine hypermobility |
| HP:0040308 | Male anorgasmia |
| HP:0046502 | Anorgasmia |
| HP:0040309 | Increased size of the mandible |
| HP:0000277 | Abnormality of the mandible |
| HP:0030791 | Abnormal jaw morphology |
| http://purl.obolibrary.org/obo/UBERON_0003257 | yolk sac endoderm |
| HP:0040306 | Decreased male libido |
| HP:0046504 | Decreased libido |
| http://purl.obolibrary.org/obo/UBERON_0003258 | endoderm of foregut |
| http://purl.obolibrary.org/obo/UBERON_0015833 | foregut epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003259 | endoderm of midgut |
| http://purl.obolibrary.org/obo/UBERON_0003352 | epithelium of midgut |
| HP:0040304 | Duplication of the sella turcica |
| HP:0002679 | Abnormality of the sella turcica |
| HP:0011821 | Abnormality of facial skeleton |
| HP:0040305 | Increased male libido |
| HP:0046503 | Increased libido |
| HP:0031845 | Abnormal libido |
| HP:0040307 | Male sexual dysfunction |
| HP:0040302 | Hyperglycerolemia |
| HP:0031795 | Abnormal circulating glycerol level |
| HP:0040303 | Decreased serum iron |
| HP:0040301 | Increased urinary glycerol |
| HP:0031979 | Abnormal urine carbohydrate level |
| http://purl.obolibrary.org/obo/UBERON_0003252 | thoracic rib cage |
| http://purl.obolibrary.org/obo/UBERON_0003253 | neck of rib |
| http://purl.obolibrary.org/obo/UBERON_0005055 | zone of long bone |
| http://purl.obolibrary.org/obo/UBERON_0003254 | amniotic ectoderm |
| HP:0005976 | Hyperkalemic metabolic acidosis |
| HP:0030977 | Increased factor VIII activity |
| HP:0030976 | Abnormal factor VIII activity |
| HP:0010989 | Abnormality of the intrinsic pathway |
| HP:0005977 | Hypochloremic metabolic alkalosis |
| HP:0001948 | Alkalosis |
| HP:0005978 | Type II diabetes mellitus |
| HP:0000819 | Diabetes mellitus |
| HP:0030978 | Decreased CSF/serum albumin ratio |
| HP:0030981 | Abnormal CSF/serum albumin ratio |
| http://purl.obolibrary.org/obo/UBERON_0015238 | pineal complex |
| HP:0005979 | Metabolic ketoacidosis |
| HP:0001942 | Metabolic acidosis |
| HP:0030979 | Dilatation of large choroidal vessels |
| HP:0025568 | Abnormal morphology of the choroidal vasculature |
| HP:0003316 | Butterfly vertebrae |
| HP:0005972 | Respiratory acidosis |
| HP:0030972 | Abnormal systemic blood pressure |
| HP:0003311 | Hypoplasia of the odontoid process |
| HP:0008518 | Aplasia/Hypoplasia involving the vertebral column |
| HP:0009122 | Aplasia/hypoplasia affecting bones of the axial skeleton |
| HP:0003310 | Abnormality of the odontoid process |
| HP:0005973 | Fructose intolerance |
| HP:0011033 | Impairment of fructose metabolism |
| HP:0032245 | Abnormal metabolism |
| HP:0030973 | Postexertional malaise |
| HP:0012378 | Fatigue |
| HP:0005974 | Episodic ketoacidosis |
| HP:0001993 | Ketoacidosis |
| HP:0001941 | Acidosis |
| HP:0004360 | Abnormality of acid-base homeostasis |
| HP:0001946 | Ketosis |
| HP:0030974 | Cryptozoospermia |
| HP:0000798 | Oligospermia |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0000025 | Functional abnormality of male internal genitalia |
| HP:0012874 | Abnormal male reproductive system physiology |
| HP:0000080 | Abnormality of reproductive system physiology |
| HP:0030975 | Pontine tegmental cap |
| HP:0007361 | Abnormality of the pons |
| HP:0002363 | Abnormality of brainstem morphology |
| HP:0011283 | Abnormality of the metencephalon |
| HP:0011282 | Abnormality of hindbrain morphology |
| HP:0003329 | Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes |
| http://purl.obolibrary.org/obo/UBERON_0003269 | skeletal muscle tissue of eye |
| http://purl.obolibrary.org/obo/UBERON_0001134 | skeletal muscle tissue |
| http://purl.obolibrary.org/obo/UBERON_0002036 | striated muscle tissue |
| http://purl.obolibrary.org/obo/UBERON_0002385 | muscle tissue |
| http://purl.obolibrary.org/obo/UBERON_0003260 | endoderm of hindgut |
| http://purl.obolibrary.org/obo/UBERON_0003353 | epithelium of hindgut |
| http://purl.obolibrary.org/obo/UBERON_0003261 | thyroid primordium endoderm |
| http://purl.obolibrary.org/obo/UBERON_0000925 | endoderm |
| http://purl.obolibrary.org/obo/UBERON_0003262 | amniotic mesoderm |
| HP:0003320 | C1-C2 subluxation |
| HP:0003308 | Cervical subluxation |
| HP:0032153 | Joint subluxation |
| HP:0001373 | Joint dislocation |
| HP:0008440 | C1-C2 vertebral abnormality |
| HP:0005982 | Reduced phenylalanine hydroxylase level |
| HP:0012379 | Abnormal enzyme/coenzyme activity |
| HP:0030969 | Abnormal pulmonary vein physiology |
| HP:0030846 | Abnormality of venous physiology |
| http://purl.obolibrary.org/obo/UBERON_0003265 | chorionic mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0010333 | extraembryonic membrane mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0000478 | extraembryonic structure |
| http://purl.obolibrary.org/obo/UBERON_0003267 | tooth of upper jaw |
| HP:0005987 | Multinodular goiter |
| HP:0003326 | Myalgia |
| HP:0030965 | Aortic stiffness |
| HP:0005988 | Congenital muscular torticollis |
| HP:0011006 | Abnormal morphology of the musculature of the neck |
| HP:0030966 | Abnormal pulmonary artery morphology |
| HP:0005989 | Redundant neck skin |
| HP:0001582 | Redundant skin |
| HP:0000973 | Cutis laxa |
| HP:0008067 | Abnormally lax or hyperextensible skin |
| HP:0010647 | Abnormal elasticity of skin |
| HP:0003328 | Abnormal hair laboratory examination |
| HP:0030967 | Abnormal pulmonary artery physiology |
| HP:0004414 | Abnormality of the pulmonary artery |
| http://purl.obolibrary.org/obo/UBERON_0015249 | digit skin |
| http://purl.obolibrary.org/obo/UBERON_0015790 | autopod skin |
| http://purl.obolibrary.org/obo/UBERON_0001419 | skin of limb |
| http://purl.obolibrary.org/obo/UBERON_0000014 | zone of skin |
| HP:0030968 | Abnormal pulmonary vein morphology |
| HP:0002624 | Abnormal venous morphology |
| HP:0011718 | Abnormality of the pulmonary veins |
| HP:0003327 | Axial muscle weakness |
| HP:0030961 | Microspherophakia |
| HP:0008063 | Aplasia/Hypoplasia of the lens |
| HP:0000517 | Abnormality of the lens |
| HP:0008062 | Aplasia/Hypoplasia affecting the anterior segment of the eye |
| HP:0007700 | Ocular anterior segment dysgenesis |
| HP:0000593 | Abnormal anterior chamber morphology |
| HP:0004328 | Abnormal anterior eye segment morphology |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye |
| HP:0005984 | Elevated maternal serum alpha-fetoprotein |
| HP:0006254 | Elevated alpha-fetoprotein |
| HP:0045056 | Abnormal levels of alpha-fetoprotein |
| HP:0030962 | Abnormal morphology of the great vessels |
| HP:0003321 | Biconcave flattened vertebrae |
| HP:0000926 | Platyspondyly |
| HP:0004586 | Biconcave vertebral bodies |
| HP:0003324 | Generalized muscle weakness |
| HP:0030964 | Abnormal aortic physiology |
| HP:0025323 | Abnormal arterial physiology |
| HP:0003323 | Progressive muscle weakness |
| http://purl.obolibrary.org/obo/UBERON_0015251 | modified sebaceous gland |
| http://purl.obolibrary.org/obo/UBERON_0001821 | sebaceous gland |
| http://purl.obolibrary.org/obo/UBERON_0012344 | holocrine gland |
| http://purl.obolibrary.org/obo/UBERON_0007771 | epidermis gland |
| http://purl.obolibrary.org/obo/UBERON_0002419 | skin gland |
| http://purl.obolibrary.org/obo/UBERON_0019319 | exocrine gland of integumental system |
| http://purl.obolibrary.org/obo/UBERON_0002365 | exocrine gland |
| http://purl.obolibrary.org/obo/UBERON_0003297 | gland of integumental system |
| http://purl.obolibrary.org/obo/UBERON_0003279 | endothelium of trachea |
| http://purl.obolibrary.org/obo/UBERON_0001901 | epithelium of trachea |
| http://purl.obolibrary.org/obo/UBERON_0004815 | lower respiratory tract epithelium |
| http://purl.obolibrary.org/obo/UBERON_0004802 | respiratory tract epithelium |
| http://purl.obolibrary.org/obo/UBERON_0010499 | pseudostratified ciliated columnar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0010498 | pseudostratified columnar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0007592 | ciliated columnar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0000485 | simple columnar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0012274 | columnar epithelium |
| http://purl.obolibrary.org/obo/UBERON_0007601 | ciliated epithelium |
| http://purl.obolibrary.org/obo/UBERON_0001986 | endothelium |
| HP:0005990 | Thyroid hypoplasia |
| HP:0008188 | Thyroid dysgenesis |
| HP:0005991 | Limited neck flexion |
| HP:0030958 | Membranous ventricular septal aneurysm |
| HP:0030959 | Muscular ventricular septal aneurysm |
| http://purl.obolibrary.org/obo/UBERON_0003277 | skeleton of upper jaw |
| http://purl.obolibrary.org/obo/UBERON_0003278 | skeleton of lower jaw |
| HP:0003337 | Reduced prothrombin consumption |
| HP:0012200 | Abnormality of prothrombin |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0001928 | Abnormality of coagulation |
| HP:0005999 | Ureteral atresia |
| HP:0025633 | Abnormal ureter morphology |
| HP:0000069 | Abnormality of the ureter |
| HP:0000809 | Urinary tract atresia |
| HP:0030955 | Alcoholism |
| HP:0030858 | Addictive behavior |
| HP:0003336 | Abnormal enchondral ossification |
| HP:0011849 | Abnormal bone ossification |
| HP:0030956 | Abnormality of cardiovascular system electrophysiology |
| HP:0003339 | Pyrimidine-responsive megaloblastic anemia |
| HP:0001889 | Megaloblastic anemia |
| HP:0001972 | Macrocytic anemia |
| HP:0010972 | Anemia of inadequate production |
| HP:0001903 | Anemia |
| HP:0001877 | Abnormal erythrocyte morphology |
| HP:0012130 | Abnormal erythroid lineage cell morphology |
| HP:0030957 | Ventricular septal aneurysm |
| HP:0010438 | Abnormal ventricular septum morphology |
| HP:0001713 | Abnormal cardiac ventricle morphology |
| HP:0001671 | Abnormal cardiac septum morphology |
| HP:0003338 | Focal necrosis of right ventricular muscle cells |
| HP:0001637 | Abnormal myocardium morphology |
| HP:0001627 | Abnormal heart morphology |
| HP:0005994 | Nodular goiter |
| HP:0000853 | Goiter |
| HP:0011772 | Abnormality of thyroid morphology |
| HP:0000820 | Abnormality of the thyroid gland |
| HP:0031071 | Abnormal endocrine morphology |
| HP:0030950 | Pulmonary venous hypertension |
| HP:0030875 | Abnormality of pulmonary circulation |
| HP:0030163 | Abnormal vascular physiology |
| HP:0011025 | Abnormal cardiovascular system physiology |
| HP:0003333 | Increased serum beta-hexosaminidase |
| HP:0010876 | Abnormal circulating protein level |
| HP:0005995 | Decreased adipose tissue around neck |
| HP:0003758 | Reduced subcutaneous adipose tissue |
| HP:0040063 | Decreased adipose tissue |
| HP:0001001 | Abnormality of subcutaneous fat tissue |
| HP:0009124 | Abnormal adipose tissue morphology |
| HP:0030951 | Skeletal muscle fibrosis |
| HP:0003332 | Absent primary metaphyseal spongiosa |
| HP:0005089 | Abnormal metaphyseal trabeculation |
| HP:0030952 | Birdshot choroidal lesions |
| HP:0000610 | Abnormal choroid morphology |
| HP:0000553 | Abnormal uvea morphology |
| HP:0025015 | Abnormal vascular morphology |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| HP:0001098 | Abnormal fundus morphology |
| HP:0004329 | Abnormal posterior eye segment morphology |
| HP:0003334 | Elevated circulating catecholamine level |
| HP:0012099 | Abnormality of circulating catecholamine level |
| HP:0002157 | Azotemia |
| HP:0004364 | Abnormal circulating nitrogen compound concentration |
| HP:0030953 | Conjunctival hyperemia |
| HP:0025337 | Red eye |
| HP:0008047 | Abnormality of the vasculature of the eye |
| HP:0012372 | Abnormal eye morphology |
| HP:0000478 | Abnormality of the eye |
| HP:0000502 | Abnormal conjunctiva morphology |
| HP:0005997 | Restricted neck movement due to contractures |
| HP:0005986 | Limitation of neck motion |
| HP:0001371 | Flexion contracture |
| HP:0100261 | Abnormal tendon morphology |
| http://purl.obolibrary.org/obo/UBERON_0005868 | maxillary prominence |
| http://purl.obolibrary.org/obo/UBERON_0005867 | mandibular prominence |
| http://purl.obolibrary.org/obo/UBERON_0012314 | embryonic facial prominence |
| http://purl.obolibrary.org/obo/UBERON_0005866 | pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0005865 | pre-muscle condensation |
| HP:0040333 | Confluent hypointensity of cerebral white matter on MRI |
| http://purl.obolibrary.org/obo/CHEBI_48873 | cholinergic antagonist |
| http://purl.obolibrary.org/obo/CHEBI_38323 | cholinergic drug |
| http://purl.obolibrary.org/obo/CHEBI_35942 | neurotransmitter agent |
| http://purl.obolibrary.org/obo/CHEBI_23888 | drug |
| http://purl.obolibrary.org/obo/CHEBI_52217 | pharmaceutical |
| http://purl.obolibrary.org/obo/CHEBI_33232 | application |
| HP:0040334 | Purulent rhinitis |
| HP:0002257 | Chronic rhinitis |
| HP:0012384 | Rhinitis |
| HP:0000366 | Abnormality of the nose |
| HP:0040331 | Focal hypointensity of cerebral white matter on MRI |
| HP:0040332 | Multifocal hypointensity of cerebral white matter on MRI |
| HP:0007103 | Hypointensity of cerebral white matter on MRI |
| HP:0040330 | Confluent hyperintensity of cerebral white matter on MRI |
| HP:0007204 | Diffuse white matter abnormalities |
| http://purl.obolibrary.org/obo/UBERON_0005863 | cartilaginous condensation |
| http://purl.obolibrary.org/obo/UBERON_0005876 | undifferentiated genital tubercle |
| http://purl.obolibrary.org/obo/UBERON_0003216 | hard palate |
| http://purl.obolibrary.org/obo/UBERON_0003218 | ovary septum |
| http://purl.obolibrary.org/obo/UBERON_0003037 | septum |
| http://purl.obolibrary.org/obo/UBERON_0003212 | gustatory organ |
| http://purl.obolibrary.org/obo/UBERON_0000005 | chemosensory organ |
| http://purl.obolibrary.org/obo/UBERON_0005874 | 3rd arch pharyngeal cleft |
| http://purl.obolibrary.org/obo/UBERON_0005873 | 2nd arch pharyngeal cleft |
| http://purl.obolibrary.org/obo/UBERON_0005872 | 1st arch pharyngeal cleft |
| http://purl.obolibrary.org/obo/UBERON_0005879 | pharyngeal cleft |
| http://purl.obolibrary.org/obo/UBERON_0016545 | pharyngeal ectoderm |
| http://purl.obolibrary.org/obo/UBERON_0003351 | pharyngeal epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005911 | endo-epithelium |
| http://purl.obolibrary.org/obo/UBERON_0004807 | respiratory system epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006846 | surface groove |
| http://purl.obolibrary.org/obo/UBERON_0005870 | olfactory pit |
| http://purl.obolibrary.org/obo/UBERON_0016566 | pit |
| http://purl.obolibrary.org/obo/UBERON_0036215 | anatomical surface region |
| HP:0040319 | Dark urine |
| HP:0040317 | Blue urine |
| HP:0040318 | Red urine |
| HP:0040315 | Tongue edema |
| HP:0000969 | Edema |
| HP:0011032 | Abnormality of fluid regulation |
| HP:0040313 | Oligoarthritis |
| http://purl.obolibrary.org/obo/UBERON_0003229 | epithelium of elbow |
| HP:0040314 | Blind vagina |
| HP:0000142 | Abnormal vagina morphology |
| HP:0040311 | Symetrical distal arthritis |
| HP:0040312 | Temporomandibular arthritis |
| HP:0040310 | Sterile arthritis |
| HP:0001369 | Arthritis |
| http://purl.obolibrary.org/obo/UBERON_0003220 | metanephric mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003918 | kidney mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003221 | phalanx |
| http://purl.obolibrary.org/obo/UBERON_0012357 | digitopodium bone |
| http://purl.obolibrary.org/obo/UBERON_0003606 | limb long bone |
| http://purl.obolibrary.org/obo/UBERON_0002495 | long bone |
| http://purl.obolibrary.org/obo/UBERON_0015023 | phalanx endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0005884 | hyoid arch skeleton |
| http://purl.obolibrary.org/obo/UBERON_0010912 | subdivision of skeleton |
| http://purl.obolibrary.org/obo/UBERON_0005881 | autopodial extension |
| http://purl.obolibrary.org/obo/UBERON_0000475 | organism subdivision |
| http://www.informatics.jax.org/marker/MGI:99440 | Cd33 (mouse) |
| HP:0030990 | Pleomorphic cholangitis |
| HP:0030991 | Sclerosing cholangitis |
| HP:0030151 | Cholangitis |
| HP:0030993 | Duplication of pancreatic duct |
| HP:0030992 | Abnormal pancreatic duct morphology |
| http://purl.obolibrary.org/obo/UBERON_0005899 | pes bone |
| http://purl.obolibrary.org/obo/UBERON_0005897 | manus bone |
| http://purl.obolibrary.org/obo/UBERON_0008962 | forelimb bone |
| http://purl.obolibrary.org/obo/UBERON_0010741 | bone of pectoral complex |
| http://purl.obolibrary.org/obo/UBERON_0011250 | autopod bone |
| HP:0040328 | Focal hyperintensity of cerebral white matter on MRI |
| HP:0007042 | Focal white matter lesions |
| HP:0040329 | Multifocal hyperintensity of cerebral white matter on MRI |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI |
| HP:0007052 | Multifocal cerebral white matter abnormalities |
| HP:0002500 | Abnormality of the cerebral white matter |
| HP:0010993 | Abnormality of the cerebral subcortex |
| HP:0040326 | Hypoplasia of the olfactory bulb |
| HP:0002977 | Aplasia/Hypoplasia involving the central nervous system |
| HP:0040327 | Abnormal morphology of the olfactory bulb |
| HP:0040324 | Heliotrope rash |
| HP:0040325 | Bull's eye rash |
| HP:0000988 | Rash |
| HP:0011123 | Inflammatory abnormality of the skin |
| HP:0012649 | Increased inflammatory response |
| HP:0012647 | Abnormal inflammatory response |
| http://purl.obolibrary.org/obo/PR_P08920 | T-cell surface antigen CD2 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001083 | CD2 molecule |
| HP:0040322 | Purple urine |
| HP:0040323 | Erythema of the eyelids |
| HP:0010783 | Erythema |
| HP:0011276 | Vascular skin abnormality |
| HP:0011354 | Generalized abnormality of skin |
| HP:0011121 | Abnormality of skin morphology |
| HP:0000492 | Abnormal eyelid morphology |
| HP:0040320 | Red-brown urine |
| HP:0040321 | Dark yellow urine |
| HP:0012086 | Abnormal urinary color |
| http://purl.obolibrary.org/obo/UBERON_0003230 | epithelium of carpal region |
| http://purl.obolibrary.org/obo/UBERON_0003231 | epithelium of hip |
| http://purl.obolibrary.org/obo/UBERON_0003232 | epithelium of knee |
| http://purl.obolibrary.org/obo/UBERON_0003233 | epithelium of shoulder |
| HP:0030998 | Cerebrospinal fluid rhinorrhoea |
| HP:0002921 | Abnormality of the cerebrospinal fluid |
| HP:0030999 | Abnormal vestibular saccule morphology |
| HP:0011376 | Morphological abnormality of the vestibule of the inner ear |
| HP:0009911 | Abnormal temporal bone morphology |
| HP:0011390 | Morphological abnormality of the inner ear |
| HP:0000359 | Abnormality of the inner ear |
| HP:0031703 | Abnormal ear morphology |
| HP:0000598 | Abnormality of the ear |
| HP:0002693 | Abnormality of the skull base |
| http://purl.obolibrary.org/obo/UBERON_0015214 | arcuate ligament |
| http://purl.obolibrary.org/obo/UBERON_0000211 | ligament |
| http://purl.obolibrary.org/obo/UBERON_0005181 | thoracic segment organ |
| http://purl.obolibrary.org/obo/UBERON_0005177 | trunk region element |
| http://purl.obolibrary.org/obo/UBERON_0005893 | leg bone |
| http://purl.obolibrary.org/obo/UBERON_0003464 | hindlimb bone |
| http://purl.obolibrary.org/obo/UBERON_0002428 | limb bone |
| http://purl.obolibrary.org/obo/UBERON_0002513 | endochondral bone |
| http://purl.obolibrary.org/obo/UBERON_0004375 | bone of free limb or fin |
| http://purl.obolibrary.org/obo/UBERON_0010742 | bone of pelvic complex |
| http://purl.obolibrary.org/obo/UBERON_0010740 | bone of appendage girdle complex |
| http://purl.obolibrary.org/obo/UBERON_0001474 | bone element |
| HP:0030994 | Pancreas divisum |
| HP:0012090 | Abnormal pancreas morphology |
| HP:0001732 | Abnormality of the pancreas |
| http://purl.obolibrary.org/obo/UBERON_0005891 | coelomic epithelium |
| HP:0030995 | Peritoneal effusion |
| HP:0002585 | Abnormality of the peritoneum |
| HP:0004298 | Abnormality of the abdominal wall |
| HP:0030996 | Megaduodenum |
| HP:0002246 | Abnormality of the duodenum |
| HP:0002244 | Abnormality of the small intestine |
| HP:0030997 | Atretic vas deferens |
| HP:0012872 | Abnormal vas deferens morphology |
| HP:0000022 | Abnormality of male internal genitalia |
| HP:0010461 | Abnormality of the male genitalia |
| http://www.informatics.jax.org/marker/MGI:107474 | Cd38 (mouse) |
| HP:0003384 | Peripheral axonal atrophy |
| HP:0003382 | Hypertrophic nerve changes |
| HP:0003388 | Easy fatigability |
| HP:0004302 | Functional motor deficit |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers |
| http://purl.obolibrary.org/obo/UBERON_0005838 | fasciculus of brain |
| http://purl.obolibrary.org/obo/UBERON_0005837 | fasciculus of spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0001019 | nerve fasciculus |
| http://purl.obolibrary.org/obo/CHEBI_22299 | aldonate |
| http://purl.obolibrary.org/obo/CHEBI_33721 | carbohydrate acid anion |
| HP:0003397 | Generalized hypotonia due to defect at the neuromuscular junction |
| HP:0001290 | Generalized hypotonia |
| HP:0001252 | Muscular hypotonia |
| HP:0003808 | Abnormal muscle tone |
| HP:0003396 | Syringomyelia |
| HP:0100561 | Spinal cord lesion |
| HP:0003391 | Gowers sign |
| HP:0003701 | Proximal muscle weakness |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003393 | Thenar muscle atrophy |
| HP:0009130 | Hand muscle atrophy |
| HP:0007149 | Distal upper limb amyotrophy |
| HP:0009129 | Upper limb amyotrophy |
| HP:0003797 | Limb-girdle muscle atrophy |
| HP:0003392 | First dorsal interossei muscle weakness |
| HP:0002460 | Distal muscle weakness |
| http://purl.obolibrary.org/obo/UBERON_0005845 | caudal segment of spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0005843 | sacral spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0005844 | spinal cord segment |
| http://purl.obolibrary.org/obo/UBERON_0001948 | regional part of spinal cord |
| http://purl.obolibrary.org/obo/UBERON_0000073 | regional part of nervous system |
| http://purl.obolibrary.org/obo/CHEBI_83228 | L-alpha-amino acid residue |
| http://purl.obolibrary.org/obo/CHEBI_33710 | alpha-amino-acid residue |
| http://purl.obolibrary.org/obo/CHEBI_33708 | amino-acid residue |
| http://www.informatics.jax.org/marker/MGI:99480 | Cebpa (mouse) |
| http://purl.obolibrary.org/obo/UBERON_0005855 | lumbar spinal cord ventral column |
| http://purl.obolibrary.org/obo/UBERON_0005854 | cervical spinal cord ventral column |
| http://purl.obolibrary.org/obo/UBERON_0005853 | sacral spinal cord ventral column |
| http://purl.obolibrary.org/obo/UBERON_0005852 | thoracic spinal cord ventral column |
| http://purl.obolibrary.org/obo/UBERON_0016551 | subdivision of spinal cord ventral column |
| http://purl.obolibrary.org/obo/UBERON_0016550 | spinal cord column |
| http://purl.obolibrary.org/obo/UBERON_0011215 | central nervous system cell part cluster |
| HP:0040298 | Hyperplasia of the endometrium |
| HP:0030126 | Abnormality of the endometrium |
| HP:0031105 | Abnormal uterus morphology |
| HP:0000130 | Abnormality of the uterus |
| HP:0000008 | Abnormal morphology of female internal genitalia |
| HP:0000812 | Abnormal internal genitalia |
| HP:0010460 | Abnormality of the female genitalia |
| HP:0012243 | Abnormal reproductive system morphology |
| HP:0000078 | Abnormality of the genital system |
| HP:0040299 | Decreased circulating free fatty acid level |
| HP:0040300 | Abnormal circulating free fatty acid concentration |
| HP:0040296 | Abnormal location of the eyebrow |
| HP:0000534 | Abnormal eyebrow morphology |
| HP:0030669 | Abnormal ocular adnexa morphology |
| HP:0032039 | Abnormality of the ocular adnexa |
| HP:0000315 | Abnormality of the orbital region |
| HP:0001595 | Abnormal hair morphology |
| HP:0011138 | Abnormality of skin adnexa morphology |
| HP:0040297 | Preauricular cyst |
| HP:0000383 | Abnormality of periauricular region |
| HP:0004426 | Abnormality of the cheek |
| HP:0040294 | Duplicated tongue |
| HP:0030809 | Abnormal tongue morphology |
| HP:0000157 | Abnormality of the tongue |
| HP:0040295 | Duplication of the upper lip |
| HP:0000177 | Abnormality of upper lip |
| HP:0000159 | Abnormal lip morphology |
| HP:0000163 | Abnormal oral cavity morphology |
| HP:0031816 | Abnormal oral morphology |
| HP:0000153 | Abnormality of the mouth |
| HP:0000309 | Abnormality of the midface |
| HP:0000271 | Abnormality of the face |
| HP:0040292 | Left hemiplegia |
| HP:0040293 | Right hemiplegia |
| HP:0002301 | Hemiplegia |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0010549 | Weakness due to upper motor neuron dysfunction |
| HP:0040291 | Skeletal muscle steatosis |
| http://purl.obolibrary.org/obo/GO_0030218 | erythrocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0030219 | megakaryocyte differentiation |
| http://purl.obolibrary.org/obo/CHEBI_24834 | inorganic anion |
| http://purl.obolibrary.org/obo/GO_0030216 | keratinocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0009913 | epidermal cell differentiation |
| http://purl.obolibrary.org/obo/GO_0030855 | epithelial cell differentiation |
| http://purl.obolibrary.org/obo/GO_0030217 | T cell differentiation |
| http://purl.obolibrary.org/obo/CHEBI_24836 | inorganic oxide |
| http://purl.obolibrary.org/obo/GO_0030210 | heparin biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0006024 | glycosaminoglycan biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0006023 | aminoglycan biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0009059 | macromolecule biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1901137 | carbohydrate derivative biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1901566 | organonitrogen compound biosynthetic process |
| http://purl.obolibrary.org/obo/GO_1901576 | organic substance biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0030202 | heparin metabolic process |
| http://purl.obolibrary.org/obo/GO_1903510 | mucopolysaccharide metabolic process |
| http://purl.obolibrary.org/obo/GO_0030203 | glycosaminoglycan metabolic process |
| http://purl.obolibrary.org/obo/GO_0006022 | aminoglycan metabolic process |
| http://purl.obolibrary.org/obo/GO_1901135 | carbohydrate derivative metabolic process |
| http://purl.obolibrary.org/obo/GO_0043170 | macromolecule metabolic process |
| http://purl.obolibrary.org/obo/GO_0044272 | sulfur compound biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0006790 | sulfur compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0044249 | cellular biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0009058 | biosynthetic process |
| http://purl.obolibrary.org/obo/CHEBI_36818 | seco-cholestane |
| http://purl.obolibrary.org/obo/GO_0032880 | regulation of protein localization |
| http://purl.obolibrary.org/obo/GO_0032879 | regulation of localization |
| http://purl.obolibrary.org/obo/UBERON_0005805 | dorsal aorta |
| http://purl.obolibrary.org/obo/UBERON_0000947 | aorta |
| http://purl.obolibrary.org/obo/UBERON_0013768 | great vessel of heart |
| http://purl.obolibrary.org/obo/UBERON_0003519 | thoracic cavity blood vessel |
| http://purl.obolibrary.org/obo/CHEBI_24868 | organic salt |
| http://purl.obolibrary.org/obo/CHEBI_24866 | salt |
| http://purl.obolibrary.org/obo/UBERON_0005800 | section of aorta |
| http://purl.obolibrary.org/obo/UBERON_0013522 | subdivision of tube |
| http://purl.obolibrary.org/obo/GO_0030221 | basophil differentiation |
| http://purl.obolibrary.org/obo/GO_0030851 | granulocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0032881 | regulation of polysaccharide metabolic process |
| http://purl.obolibrary.org/obo/GO_0006109 | regulation of carbohydrate metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_24864 | iodothyronine |
| http://purl.obolibrary.org/obo/UBERON_0005809 | cortex of manus bone |
| http://purl.obolibrary.org/obo/UBERON_0003598 | manus connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003588 | forelimb connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003587 | limb connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0001439 | compact bone tissue |
| http://purl.obolibrary.org/obo/GO_0032886 | regulation of microtubule-based process |
| http://purl.obolibrary.org/obo/GO_0030225 | macrophage differentiation |
| http://purl.obolibrary.org/obo/UBERON_0005808 | bone tissue of long bone |
| http://purl.obolibrary.org/obo/UBERON_0002481 | bone tissue |
| http://purl.obolibrary.org/obo/UBERON_0004755 | skeletal tissue |
| http://purl.obolibrary.org/obo/CHEBI_24863 | iodophenol |
| http://purl.obolibrary.org/obo/CHEBI_38856 | halophenol |
| http://purl.obolibrary.org/obo/CHEBI_33853 | phenols |
| http://purl.obolibrary.org/obo/CHEBI_24862 | iodoamino acid |
| http://purl.obolibrary.org/obo/CHEBI_37142 | organoiodine compound |
| http://purl.obolibrary.org/obo/CHEBI_17792 | organohalogen compound |
| http://purl.obolibrary.org/obo/CHEBI_37578 | halide |
| http://purl.obolibrary.org/obo/CHEBI_24860 | iodine molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_24471 | halogen molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_24470 | haloamino acid |
| http://purl.obolibrary.org/obo/CHEBI_83820 | non-proteinogenic amino acid |
| HP:0040278 | Prolactinoma |
| HP:0012503 | Abnormality of the pituitary gland |
| HP:0010662 | Abnormality of the diencephalon |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis |
| http://purl.obolibrary.org/obo/PR_P06332 | T-cell surface glycoprotein CD4 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001004 | CD4 molecule |
| http://purl.obolibrary.org/obo/UBERON_0005806 | portal system |
| http://purl.obolibrary.org/obo/UBERON_0002049 | vasculature |
| http://purl.obolibrary.org/obo/GO_0030224 | monocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0002573 | myeloid leukocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0030099 | myeloid cell differentiation |
| http://purl.obolibrary.org/obo/GO_1903131 | mononuclear cell differentiation |
| HP:0040276 | Adenocarcinoma of the colon |
| HP:0100273 | Neoplasm of the colon |
| HP:0040277 | Neoplasm of the pituitary gland |
| HP:0100568 | Neoplasm of the endocrine system |
| HP:0040274 | Adenocarcinoma of the small intestine |
| HP:0100833 | Neoplasm of the small intestine |
| HP:0040275 | Adenocarcinoma of the large intestine |
| HP:0100834 | Neoplasm of the large intestine |
| HP:0002250 | Abnormal large intestine morphology |
| HP:0002242 | Abnormal intestine morphology |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract |
| HP:0040272 | Hyperintensity of MRI T2 signal of the spinal cord |
| HP:0040273 | Adenocarcinoma of the intestines |
| HP:0002672 | Gastrointestinal carcinoma |
| HP:0006749 | Malignant gastrointestinal tract tumors |
| HP:0007378 | Neoplasm of the gastrointestinal tract |
| HP:0011024 | Abnormality of the gastrointestinal tract |
| HP:0040270 | Impaired glucose tolerance |
| HP:0001952 | Glucose intolerance |
| http://purl.obolibrary.org/obo/CHEBI_36841 | 11-hydroxy steroid |
| http://purl.obolibrary.org/obo/UBERON_0005814 | arch of atlas |
| http://purl.obolibrary.org/obo/UBERON_0010358 | arch of centrum of vertebra |
| http://purl.obolibrary.org/obo/UBERON_0005813 | tubercle |
| http://purl.obolibrary.org/obo/CHEBI_24859 | iodine atom |
| http://purl.obolibrary.org/obo/CHEBI_24473 | halogen |
| http://purl.obolibrary.org/obo/CHEBI_33560 | p-block element atom |
| http://purl.obolibrary.org/obo/CHEBI_33318 | main group element atom |
| http://purl.obolibrary.org/obo/CHEBI_25585 | nonmetal atom |
| http://purl.obolibrary.org/obo/CHEBI_33250 | atom |
| HP:0040289 | Cyclic neutropenia |
| HP:0001875 | Neutropenia |
| HP:0011991 | Abnormal neutrophil count |
| HP:0001874 | Abnormality of neutrophils |
| HP:0032309 | Abnormal granulocyte count |
| HP:0011893 | Abnormal leukocyte count |
| HP:0001911 | Abnormal granulocyte morphology |
| HP:0010974 | Abnormal myeloid leukocyte morphology |
| HP:0020047 | Abnormal myeloid cell morphology |
| HP:0025461 | Abnormal cell morphology |
| HP:0001881 | Abnormal leukocyte morphology |
| HP:0010987 | Abnormal cellular immune system morphology |
| HP:0032251 | Abnormal immune system morphology |
| HP:0040287 | Axial muscle atrophy |
| http://purl.obolibrary.org/obo/CHEBI_36838 | 17-hydroxy steroid |
| HP:0040288 | Nasogastric tube feeding |
| HP:0011968 | Feeding difficulties |
| HP:0011458 | Abdominal symptom |
| HP:0025032 | Abnormality of digestive system physiology |
| HP:0040285 | Excluded |
| HP:0040286 | Abnormal axial muscle morphology |
| HP:0040283 | Occasional |
| HP:0040284 | Very rare |
| HP:0040281 | Very frequent |
| http://purl.obolibrary.org/obo/CHEBI_36836 | 3beta-hydroxy steroid |
| http://purl.obolibrary.org/obo/CHEBI_35681 | secondary alcohol |
| http://purl.obolibrary.org/obo/CHEBI_30879 | alcohol |
| http://purl.obolibrary.org/obo/CHEBI_36834 | 3-hydroxy steroid |
| HP:0040282 | Frequent |
| http://purl.obolibrary.org/obo/CHEBI_36830 | monoanion |
| HP:0040280 | Obligate |
| HP:0040279 | Frequency |
| http://purl.obolibrary.org/obo/CHEBI_142590 | 3-aminoisobutanoic acid zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_22221 | acyl group |
| http://purl.obolibrary.org/obo/CHEBI_142567 | alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-yl group |
| http://purl.obolibrary.org/obo/CHEBI_30697 | beta-D-glucosyl group |
| http://purl.obolibrary.org/obo/CHEBI_24280 | D-glucosyl group |
| http://purl.obolibrary.org/obo/CHEBI_24281 | glucosyl group |
| http://purl.obolibrary.org/obo/CHEBI_24403 | glycosyl group |
| http://purl.obolibrary.org/obo/GO_0030252 | growth hormone secretion |
| http://purl.obolibrary.org/obo/GO_0030072 | peptide hormone secretion |
| http://purl.obolibrary.org/obo/GO_0002790 | peptide secretion |
| http://purl.obolibrary.org/obo/GO_0015833 | peptide transport |
| http://purl.obolibrary.org/obo/GO_0071702 | organic substance transport |
| http://purl.obolibrary.org/obo/GO_0042886 | amide transport |
| http://purl.obolibrary.org/obo/GO_0071705 | nitrogen compound transport |
| http://purl.obolibrary.org/obo/GO_0046879 | hormone secretion |
| http://purl.obolibrary.org/obo/GO_0009914 | hormone transport |
| http://purl.obolibrary.org/obo/GO_0010817 | regulation of hormone levels |
| http://purl.obolibrary.org/obo/GO_0023061 | signal release |
| http://purl.obolibrary.org/obo/GO_0032940 | secretion by cell |
| http://purl.obolibrary.org/obo/GO_0140352 | export from cell |
| http://purl.obolibrary.org/obo/GO_0046903 | secretion |
| http://purl.obolibrary.org/obo/GO_0006810 | transport |
| http://purl.obolibrary.org/obo/GO_0051234 | establishment of localization |
| http://purl.obolibrary.org/obo/GO_0051179 | localization |
| http://purl.obolibrary.org/obo/GO_0030258 | lipid modification |
| http://purl.obolibrary.org/obo/GO_0044255 | cellular lipid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006629 | lipid metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_24875 | iron cation |
| http://purl.obolibrary.org/obo/CHEBI_82663 | elemental iron |
| http://purl.obolibrary.org/obo/CHEBI_33515 | transition element cation |
| http://purl.obolibrary.org/obo/CHEBI_25213 | metal cation |
| http://purl.obolibrary.org/obo/CHEBI_23906 | monoatomic cation |
| http://purl.obolibrary.org/obo/CHEBI_24867 | monoatomic ion |
| http://purl.obolibrary.org/obo/CHEBI_33238 | monoatomic entity |
| http://purl.obolibrary.org/obo/CHEBI_33259 | elemental molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_36915 | inorganic cation |
| http://purl.obolibrary.org/obo/CHEBI_36914 | inorganic ion |
| http://purl.obolibrary.org/obo/CHEBI_24835 | inorganic molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_36916 | cation |
| http://purl.obolibrary.org/obo/CHEBI_24873 | iron molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33744 | iron group molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33676 | d-block molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33497 | transition element molecular entity |
| http://purl.obolibrary.org/obo/GO_0030262 | apoptotic nuclear changes |
| http://purl.obolibrary.org/obo/GO_0006921 | cellular component disassembly involved in execution phase of apoptosis |
| http://purl.obolibrary.org/obo/GO_0022411 | cellular component disassembly |
| http://purl.obolibrary.org/obo/CHEBI_36853 | hydroxy seco-steroid |
| http://purl.obolibrary.org/obo/CHEBI_35350 | hydroxy steroid |
| http://purl.obolibrary.org/obo/CHEBI_33822 | organic hydroxy compound |
| http://purl.obolibrary.org/obo/CHEBI_35788 | seco-steroid |
| http://purl.obolibrary.org/obo/GO_0030263 | apoptotic chromosome condensation |
| http://purl.obolibrary.org/obo/GO_0030261 | chromosome condensation |
| http://purl.obolibrary.org/obo/GO_0006323 | DNA packaging |
| http://purl.obolibrary.org/obo/GO_0071103 | DNA conformation change |
| http://purl.obolibrary.org/obo/GO_0051276 | chromosome organization |
| http://purl.obolibrary.org/obo/CHEBI_48854 | sulfurous acid |
| http://purl.obolibrary.org/obo/CHEBI_33402 | sulfur oxoacid |
| http://purl.obolibrary.org/obo/CHEBI_26835 | sulfur molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33484 | chalcogen oxoacid |
| http://purl.obolibrary.org/obo/CHEBI_36885 | 20-oxo steroid |
| http://purl.obolibrary.org/obo/CHEBI_36887 | 18-oxo steroid |
| http://purl.obolibrary.org/obo/CHEBI_35789 | oxo steroid |
| http://purl.obolibrary.org/obo/CHEBI_35341 | steroid |
| http://purl.obolibrary.org/obo/CHEBI_51958 | organic polycyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_17087 | ketone |
| http://purl.obolibrary.org/obo/CHEBI_24898 | isoleucine |
| http://purl.obolibrary.org/obo/CHEBI_38264 | 2-amino-3-methylpentanoic acid |
| http://purl.obolibrary.org/obo/CHEBI_33704 | alpha-amino acid |
| http://purl.obolibrary.org/obo/CHEBI_22918 | branched-chain amino acid |
| http://purl.obolibrary.org/obo/CHEBI_33709 | amino acid |
| http://purl.obolibrary.org/obo/CHEBI_33575 | carboxylic acid |
| http://purl.obolibrary.org/obo/CHEBI_64709 | organic acid |
| http://purl.obolibrary.org/obo/CHEBI_35605 | carbon oxoacid |
| http://purl.obolibrary.org/obo/CHEBI_24833 | oxoacid |
| http://purl.obolibrary.org/obo/CHEBI_24651 | hydroxides |
| http://purl.obolibrary.org/obo/CHEBI_33608 | hydrogen molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33674 | s-block molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_36586 | carbonyl compound |
| http://purl.obolibrary.org/obo/CHEBI_36587 | organic oxo compound |
| http://purl.obolibrary.org/obo/PR_P21926 | CD9 antigen (human) |
| http://purl.obolibrary.org/obo/PR_000005178 | CD9 molecule |
| http://purl.obolibrary.org/obo/PR_000001403 | tetraspanin |
| http://purl.obolibrary.org/obo/GO_0030279 | negative regulation of ossification |
| http://purl.obolibrary.org/obo/GO_0030278 | regulation of ossification |
| http://purl.obolibrary.org/obo/GO_0030282 | bone mineralization |
| http://purl.obolibrary.org/obo/GO_0031214 | biomineral tissue development |
| http://purl.obolibrary.org/obo/GO_0009888 | tissue development |
| http://purl.obolibrary.org/obo/GO_0048856 | anatomical structure development |
| http://purl.obolibrary.org/obo/GO_0110148 | biomineralization |
| HP:0005929 | Synostosis involving the tibia |
| HP:0002992 | Abnormality of tibia morphology |
| http://purl.obolibrary.org/obo/CHEBI_142533 | ->4)-alpha-D-Galp-(1->4)-beta-D-Galp-(1->4)-beta-D-Glcp-yl group |
| HP:0005925 | Abnormalities of the diaphyses of the hand |
| HP:0009808 | Anomaly of the upper limb diaphyses |
| HP:0000940 | Abnormal diaphysis morphology |
| HP:0005926 | Abnormality of hand cortical bone |
| HP:0003103 | Abnormal cortical bone morphology |
| HP:0003549 | Abnormality of connective tissue |
| HP:0005928 | Synostosis involving the fibula |
| HP:0009138 | Synostosis involving bones of the lower limbs |
| HP:0100491 | Abnormality of lower limb joint |
| HP:0100240 | Synostosis of joints |
| HP:0001367 | Abnormal joint morphology |
| HP:0011729 | Abnormality of joint mobility |
| HP:0011843 | Abnormality of skeletal physiology |
| HP:0003330 | Abnormal bone structure |
| HP:0002991 | Abnormality of fibula morphology |
| HP:0002981 | Abnormality of the calf |
| HP:0005923 | Abnormalities of the metaphyses of the hand |
| HP:0009809 | Abnormality of upper limb metaphysis |
| HP:0005920 | Abnormal epiphysis morphology of the phalanges of the hand |
| http://purl.obolibrary.org/obo/GO_0019814 | immunoglobulin complex |
| HP:0005938 | Abnormal respiratory motile cilium morphology |
| HP:0012253 | Abnormal respiratory epithelium morphology |
| HP:0005939 | Multiple bilateral pneumothoraces |
| HP:0002107 | Pneumothorax |
| HP:0005932 | Abnormal renal corticomedullary differentiation |
| HP:0011035 | Abnormal renal cortex morphology |
| HP:0100957 | Abnormal renal medulla morphology |
| HP:0012210 | Abnormal renal morphology |
| HP:0000077 | Abnormality of the kidney |
| HP:0010935 | Abnormality of the upper urinary tract |
| HP:0005934 | Imperfect vocal cord adduction |
| HP:0031801 | Vocal cord dysfunction |
| HP:0001608 | Abnormality of the voice |
| HP:0005947 | Decreased sensitivity to hypoxemia |
| HP:0005948 | Multiple pulmonary cysts |
| HP:0032445 | Pulmonary cyst |
| HP:0005949 | Apneic episodes in infancy |
| HP:0002104 | Apnea |
| HP:0005943 | Respiratory arrest |
| HP:0005944 | Bilateral lung agenesis |
| HP:0006703 | Aplasia/Hypoplasia of the lungs |
| http://purl.obolibrary.org/obo/GO_0019852 | L-ascorbic acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006767 | water-soluble vitamin metabolic process |
| http://purl.obolibrary.org/obo/GO_0006766 | vitamin metabolic process |
| http://purl.obolibrary.org/obo/GO_0005996 | monosaccharide metabolic process |
| http://purl.obolibrary.org/obo/GO_0005975 | carbohydrate metabolic process |
| http://purl.obolibrary.org/obo/GO_0044238 | primary metabolic process |
| HP:0005945 | Laryngeal obstruction |
| HP:0005946 | Ventilator dependence with inability to wean |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0002093 | Respiratory insufficiency |
| HP:0005941 | Intermittent hyperpnea at rest |
| HP:0004879 | Intermittent hyperventilation |
| HP:0002883 | Hyperventilation |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0005942 | Desquamative interstitial pneumonitis |
| HP:0006530 | Interstitial pulmonary abnormality |
| HP:0005959 | Impaired gluconeogenesis |
| HP:0011013 | Abnormal circulating carbohydrate concentration |
| HP:0011014 | Abnormal glucose homeostasis |
| HP:0012337 | Abnormal homeostasis |
| http://purl.obolibrary.org/obo/PR_Q9PT92 | catalase (zebrafish) |
| http://purl.obolibrary.org/obo/PR_000005061 | catalase |
| http://purl.obolibrary.org/obo/PR_000029061 | Danio rerio protein |
| HP:0005954 | Pulmonary capillary hemangiomatosis |
| HP:0004930 | Abnormality of the pulmonary vasculature |
| HP:0002088 | Abnormal lung morphology |
| HP:0005306 | Capillary hemangioma |
| HP:0007461 | Hemangiomatosis |
| HP:0001028 | Hemangioma |
| HP:0100742 | Vascular neoplasm |
| HP:0011793 | Neoplasm by anatomical site |
| HP:0002664 | Neoplasm |
| HP:0002597 | Abnormality of the vasculature |
| HP:0001626 | Abnormality of the cardiovascular system |
| HP:0005956 | Anteroposteriorly shortened larynx |
| http://purl.obolibrary.org/obo/GO_0042221 | response to chemical |
| HP:0005957 | Breathing dysregulation |
| HP:0005950 | Laryngeal web |
| HP:0025423 | Abnormal larynx morphology |
| HP:0001600 | Abnormality of the larynx |
| HP:0002087 | Abnormality of the upper respiratory tract |
| HP:0012252 | Abnormal respiratory system morphology |
| HP:0005951 | Progressive inspiratory stridor |
| HP:0005348 | Inspiratory stridor |
| HP:0010307 | Stridor |
| HP:0030829 | Abnormal breath sound |
| HP:0005952 | Decreased pulmonary function |
| http://purl.obolibrary.org/obo/UBERON_0015181 | neck of tooth |
| http://purl.obolibrary.org/obo/UBERON_0015180 | neck of talus |
| http://purl.obolibrary.org/obo/UBERON_0018664 | neck of bone element |
| http://purl.obolibrary.org/obo/UBERON_0001560 | neck of organ |
| http://purl.obolibrary.org/obo/UBERON_0005913 | zone of bone organ |
| HP:0030907 | Thunderclap headache |
| HP:0002315 | Headache |
| HP:0030908 | Liver kidney microsome type 1 antibody positivity |
| HP:0030909 | Anti-liver cytosolic antigen type 1 antibody positivity |
| http://purl.obolibrary.org/obo/PR_P18337 | L-selectin (mouse) |
| http://purl.obolibrary.org/obo/PR_000001318 | L-selectin |
| HP:0030903 | Grasp reflex |
| HP:0030904 | Glabellar reflex |
| HP:0030905 | Snout reflex |
| HP:0030906 | Suck reflex |
| HP:0030900 | Pruritus on foot |
| HP:0030901 | Pruritis on breast |
| HP:0000989 | Pruritus |
| HP:0011122 | Abnormality of skin physiology |
| HP:0000951 | Abnormality of the skin |
| HP:0001574 | Abnormality of the integument |
| HP:0030902 | Palmomental reflex |
| HP:0002476 | Primitive reflex |
| http://purl.obolibrary.org/obo/GO_0032839 | dendrite cytoplasm |
| http://purl.obolibrary.org/obo/GO_0120111 | neuron projection cytoplasm |
| http://purl.obolibrary.org/obo/GO_0032838 | plasma membrane bounded cell projection cytoplasm |
| http://purl.obolibrary.org/obo/GO_0099568 | cytoplasmic region |
| http://purl.obolibrary.org/obo/GO_0005737 | cytoplasm |
| http://purl.obolibrary.org/obo/GO_0019866 | organelle inner membrane |
| http://purl.obolibrary.org/obo/GO_0031090 | organelle membrane |
| http://purl.obolibrary.org/obo/GO_0016020 | membrane |
| http://purl.obolibrary.org/obo/CHEBI_24828 | indoles |
| http://purl.obolibrary.org/obo/CHEBI_22728 | benzopyrrole |
| http://purl.obolibrary.org/obo/CHEBI_38180 | polycyclic heteroarene |
| http://purl.obolibrary.org/obo/CHEBI_27171 | organic heterobicyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_38166 | organic heteropolycyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_33671 | heteropolycyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_33635 | polycyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_33672 | heterobicyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_33636 | bicyclic compound |
| HP:0005905 | Abnormal cervical curvature |
| HP:0046508 | Abnormal cervical spine morphology |
| HP:0003319 | Abnormality of the cervical spine |
| HP:0000464 | Abnormality of the neck |
| HP:0005906 | Delayed pneumatization of the mastoid process |
| HP:0000264 | Abnormality of the mastoid |
| HP:0000929 | Abnormal skull morphology |
| HP:0000234 | Abnormality of the head |
| HP:0000152 | Abnormality of head or neck |
| HP:0005900 | Fifth metacarpal with ulnar notch |
| HP:0010013 | Abnormality of the 5th metacarpal |
| HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones |
| HP:0005927 | Aplasia/hypoplasia involving bones of the hand |
| HP:0006496 | Aplasia/hypoplasia involving bones of the upper limbs |
| HP:0045060 | Aplasia/hypoplasia involving bones of the extremities |
| HP:0009815 | Aplasia/hypoplasia of the extremities |
| HP:0009115 | Aplasia/hypoplasia involving the skeleton |
| HP:0005916 | Abnormal metacarpal morphology |
| HP:0005917 | Supernumerary metacarpal bones |
| http://purl.obolibrary.org/obo/GO_0044848 | biological phase |
| HP:0005910 | Rhomboid or triangular shaped 5th finger middle phalanx |
| HP:0009182 | Triangular shaped middle phalanx of the 5th finger |
| HP:0004219 | Abnormality of the middle phalanx of the 5th finger |
| HP:0009850 | Triangular shaped middle phalanges of the hand |
| HP:0009833 | Abnormal middle phalanx morphology of the hand |
| HP:0009378 | Triangular shaped phalanges of the 5th finger |
| HP:0009774 | Triangular shaped phalanges of the hand |
| HP:0004213 | Abnormal 5th finger phalanx morphology |
| HP:0004207 | Abnormal 5th finger morphology |
| HP:0005918 | Abnormal finger phalanx morphology |
| HP:0001167 | Abnormality of finger |
| HP:0011297 | Abnormal digit morphology |
| HP:0005912 | Biliary atresia |
| HP:0012440 | Abnormal biliary tract morphology |
| HP:0001080 | Biliary tract abnormality |
| HP:0004297 | Abnormality of the biliary system |
| HP:0001392 | Abnormality of the liver |
| HP:0002012 | Abnormality of the abdominal organs |
| HP:0025033 | Abnormality of digestive system morphology |
| HP:0025031 | Abnormality of the digestive system |
| HP:0005913 | Abnormality of metacarpal epiphyses |
| HP:0005924 | Abnormality of the epiphyses of the hand |
| HP:0003839 | Abnormality of upper limb epiphysis morphology |
| HP:0006505 | Abnormality of limb epiphysis morphology |
| HP:0005930 | Abnormality of epiphysis morphology |
| HP:0001163 | Abnormality of the metacarpal bones |
| HP:0040070 | Abnormal upper limb bone morphology |
| http://purl.obolibrary.org/obo/UBERON_0015142 | falciform fat |
| http://purl.obolibrary.org/obo/UBERON_0003427 | abdominal fat pad |
| http://purl.obolibrary.org/obo/UBERON_0007808 | adipose tissue of abdominal region |
| http://purl.obolibrary.org/obo/UBERON_0003567 | abdomen connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003838 | abdominal segment connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0015143 | mesenteric fat pad |
| http://purl.obolibrary.org/obo/UBERON_0003916 | fat pad |
| http://purl.obolibrary.org/obo/UBERON_0015145 | pes hair |
| http://purl.obolibrary.org/obo/UBERON_0015147 | pinna hair |
| http://purl.obolibrary.org/obo/UBERON_0022279 | strand of hair on external ear |
| http://purl.obolibrary.org/obo/UBERON_0016446 | hair of head |
| http://purl.obolibrary.org/obo/UBERON_0015146 | manus hair |
| http://purl.obolibrary.org/obo/UBERON_0015144 | autopod hair |
| HP:0003461 | Increased urinary O-linked sialopeptides |
| HP:0012067 | Glycopeptiduria |
| HP:0003460 | Decreased circulating total IgA |
| HP:0002720 | Decreased circulating IgA level |
| HP:0410240 | Abnormal circulating IgA level |
| HP:0004313 | Decreased circulating antibody level |
| HP:0003463 | Increased extraneuronal autofluorescent lipopigment |
| HP:0011813 | Increased cerebral lipofuscin |
| HP:0007367 | Atrophy/Degeneration affecting the central nervous system |
| http://purl.obolibrary.org/obo/NBO_0002436 | regulation of feeding behavior |
| http://purl.obolibrary.org/obo/NBO_0002169 | regulation of consumption behavior |
| http://purl.obolibrary.org/obo/NBO_0001786 | regulation of behavior |
| http://purl.obolibrary.org/obo/NBO_0000313 | behavior process |
| HP:0003462 | Elevated 8-dehydrocholesterol |
| http://purl.obolibrary.org/obo/UBERON_0015149 | ventral hair |
| HP:0003469 | Peripheral dysmyelination |
| http://purl.obolibrary.org/obo/UBERON_0015148 | tail hair |
| HP:0003465 | Elevated 8(9)-cholestenol |
| HP:0003107 | Abnormal circulating cholesterol concentration |
| HP:0003467 | Atlantoaxial instability |
| HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test |
| HP:0011731 | Abnormality of circulating cortisol level |
| HP:0012111 | Abnormality of circulating glucocorticoid level |
| HP:0003117 | Abnormal circulating hormone level |
| http://purl.obolibrary.org/obo/CHEBI_58163 | homocystine zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_35238 | amino acid zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_27369 | zwitterion |
| http://purl.obolibrary.org/obo/CHEBI_51151 | dipolar compound |
| http://purl.obolibrary.org/obo/UBERON_0015154 | lateral gland of orbital region |
| http://purl.obolibrary.org/obo/UBERON_0015152 | gland of ocular region |
| http://purl.obolibrary.org/obo/UBERON_0002530 | gland |
| http://purl.obolibrary.org/obo/UBERON_0015156 | terminal branch of ophthalmic artery |
| http://purl.obolibrary.org/obo/UBERON_0015155 | conjunctival space |
| http://purl.obolibrary.org/obo/BFO_0000141 | immaterial entity |
| http://purl.obolibrary.org/obo/UBERON_0000464 | anatomical space |
| http://purl.obolibrary.org/obo/UBERON_0015150 | dorsal hair |
| http://purl.obolibrary.org/obo/UBERON_0001037 | strand of hair |
| http://purl.obolibrary.org/obo/UBERON_0000021 | cutaneous appendage |
| http://purl.obolibrary.org/obo/UBERON_0013703 | integumentary projection |
| http://purl.obolibrary.org/obo/UBERON_0004529 | anatomical projection |
| http://purl.obolibrary.org/obo/UBERON_0034768 | morphological feature |
| http://purl.obolibrary.org/obo/UBERON_0006003 | integumentary adnexa |
| HP:0003472 | Hypocalcemic tetany |
| HP:0002901 | Hypocalcemia |
| HP:0004363 | Abnormal circulating calcium concentration |
| HP:0010927 | Abnormal blood inorganic cation concentration |
| HP:0003474 | Sensory impairment |
| HP:0003473 | Fatigable weakness |
| HP:0003470 | Paralysis |
| HP:0003477 | Peripheral axonal neuropathy |
| http://purl.obolibrary.org/obo/UBERON_0015165 | multi-unit eye |
| http://purl.obolibrary.org/obo/UBERON_0000970 | eye |
| http://purl.obolibrary.org/obo/UBERON_0000020 | sense organ |
| http://purl.obolibrary.org/obo/UBERON_0015161 | inferior branch of oculomotor nerve |
| http://purl.obolibrary.org/obo/UBERON_0011779 | nerve of head region |
| http://purl.obolibrary.org/obo/UBERON_0001021 | nerve |
| http://purl.obolibrary.org/obo/UBERON_0000122 | neuron projection bundle |
| http://purl.obolibrary.org/obo/UBERON_0005162 | multi cell part structure |
| http://purl.obolibrary.org/obo/UBERON_0000477 | anatomical cluster |
| HP:0003482 | EMG: axonal abnormality |
| HP:0003484 | Upper limb muscle weakness |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003481 | Segmental peripheral demyelination/remyelination |
| HP:0011096 | Peripheral demyelination |
| HP:0003487 | Babinski sign |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0011442 | Abnormal central motor function |
| HP:0002538 | Abnormality of the cerebral cortex |
| HP:0002060 | Abnormal cerebral morphology |
| HP:0100547 | Abnormality of forebrain morphology |
| HP:0012443 | Abnormality of brain morphology |
| HP:0031828 | Abnormal superficial reflex |
| HP:0003489 | Acute episodes of neuropathic symptoms |
| http://purl.obolibrary.org/obo/UBERON_0015178 | somite border |
| http://purl.obolibrary.org/obo/UBERON_0015179 | somite boundary epithelium |
| http://purl.obolibrary.org/obo/UBERON_0015172 | endometrial blood vessel |
| HP:0003493 | Antinuclear antibody positivity |
| HP:0003495 | GM2-ganglioside accumulation |
| HP:0004345 | Ganglioside accumulation |
| HP:0004343 | Abnormality of glycosphingolipid metabolism |
| HP:0010969 | Abnormality of glycolipid metabolism |
| HP:0010968 | Abnormality of liposaccharide metabolism |
| HP:0032243 | Abnormal tissue metabolite concentration |
| HP:0003492 | High urinary gonadotropin level |
| HP:0012029 | Abnormal urine hormone level |
| HP:0000818 | Abnormality of the endocrine system |
| HP:0003491 | Elevated urine pyrophosphate |
| HP:0003498 | Disproportionate short stature |
| HP:0004322 | Short stature |
| HP:0000002 | Abnormality of body height |
| HP:0001510 | Growth delay |
| HP:0001507 | Growth abnormality |
| http://purl.obolibrary.org/obo/CHEBI_3892 | corticotropin |
| http://purl.obolibrary.org/obo/CHEBI_25905 | peptide hormone |
| http://purl.obolibrary.org/obo/CHEBI_15841 | polypeptide |
| http://purl.obolibrary.org/obo/CHEBI_16670 | peptide |
| http://purl.obolibrary.org/obo/CHEBI_33694 | biomacromolecule |
| http://purl.obolibrary.org/obo/CHEBI_33839 | macromolecule |
| http://purl.obolibrary.org/obo/GO_0042182 | ketone catabolic process |
| http://purl.obolibrary.org/obo/GO_1901575 | organic substance catabolic process |
| http://purl.obolibrary.org/obo/GO_0044248 | cellular catabolic process |
| http://purl.obolibrary.org/obo/GO_0044282 | small molecule catabolic process |
| http://purl.obolibrary.org/obo/GO_0009056 | catabolic process |
| http://purl.obolibrary.org/obo/GO_0042180 | cellular ketone metabolic process |
| HP:0003429 | CNS hypomyelination |
| HP:0011400 | Abnormal CNS myelination |
| http://purl.obolibrary.org/obo/UBERON_0005788 | lamina rara interna |
| http://purl.obolibrary.org/obo/UBERON_0015103 | distal tarsal bone 1 cartilage |
| http://purl.obolibrary.org/obo/UBERON_0015100 | distal tarsal cartilage |
| http://purl.obolibrary.org/obo/CHEBI_58190 | O-phosphonatoethanaminium(1-) |
| http://purl.obolibrary.org/obo/CHEBI_58945 | organophosphate oxoanion |
| http://purl.obolibrary.org/obo/UBERON_0003126 | trachea |
| http://purl.obolibrary.org/obo/UBERON_0000117 | respiratory tube |
| http://purl.obolibrary.org/obo/UBERON_0000025 | tube |
| http://purl.obolibrary.org/obo/UBERON_0003128 | cranium |
| http://purl.obolibrary.org/obo/UBERON_0003129 | skull |
| http://purl.obolibrary.org/obo/UBERON_0003120 | pharyngeal arch artery 3 |
| http://purl.obolibrary.org/obo/UBERON_0003121 | pharyngeal arch artery 4 |
| http://purl.obolibrary.org/obo/UBERON_0003123 | pharyngeal arch artery 6 |
| http://purl.obolibrary.org/obo/UBERON_0003124 | chorion |
| http://purl.obolibrary.org/obo/UBERON_0005631 | extraembryonic membrane |
| http://purl.obolibrary.org/obo/UBERON_0000158 | membranous layer |
| http://purl.obolibrary.org/obo/UBERON_0015104 | distal tarsal bone 1 pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015101 | distal tarsal bone pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0018101 | distal mesopodial pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015102 | distal tarsal bone 1 endochondral element |
| HP:0003427 | Thenar muscle weakness |
| HP:0003690 | Limb muscle weakness |
| HP:0001324 | Muscle weakness |
| HP:0030237 | Hand muscle weakness |
| HP:0003426 | First dorsal interossei muscle atrophy |
| HP:0007181 | Interosseus muscle atrophy |
| HP:0001421 | Abnormality of the musculature of the hand |
| HP:0001446 | Abnormality of the musculature of the upper limbs |
| HP:0009127 | Abnormality of the musculature of the limbs |
| HP:0005922 | Abnormal hand morphology |
| HP:0001155 | Abnormality of the hand |
| HP:0002817 | Abnormality of the upper limb |
| HP:0003693 | Distal amyotrophy |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0030236 | Abnormality of muscle size |
| HP:0003423 | Thoracolumbar kyphoscoliosis |
| HP:0002944 | Thoracolumbar scoliosis |
| HP:0005619 | Thoracolumbar kyphosis |
| HP:0002942 | Thoracic kyphosis |
| HP:0100711 | Abnormality of the thoracic spine |
| HP:0000765 | Abnormality of the thorax |
| HP:0100712 | Abnormality of the lumbar spine |
| HP:0002751 | Kyphoscoliosis |
| HP:0002650 | Scoliosis |
| HP:0002808 | Kyphosis |
| HP:0010674 | Abnormality of the curvature of the vertebral column |
| HP:0003422 | Vertebral segmentation defect |
| http://purl.obolibrary.org/obo/PR_P18181 | CD48 antigen (mouse) |
| http://purl.obolibrary.org/obo/PR_000001308 | CD48 molecule |
| http://purl.obolibrary.org/obo/UBERON_0003134 | female reproductive organ |
| http://purl.obolibrary.org/obo/UBERON_0003135 | male reproductive organ |
| http://purl.obolibrary.org/obo/UBERON_0003133 | reproductive organ |
| HP:0003436 | Prolonged miniature endplate currents |
| http://purl.obolibrary.org/obo/GO_0042168 | heme metabolic process |
| http://purl.obolibrary.org/obo/GO_0042440 | pigment metabolic process |
| http://purl.obolibrary.org/obo/GO_0006778 | porphyrin-containing compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0033013 | tetrapyrrole metabolic process |
| http://purl.obolibrary.org/obo/GO_1901564 | organonitrogen compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0006807 | nitrogen compound metabolic process |
| http://purl.obolibrary.org/obo/GO_1901360 | organic cyclic compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0006725 | cellular aromatic compound metabolic process |
| http://purl.obolibrary.org/obo/GO_0046483 | heterocycle metabolic process |
| HP:0003435 | Cold-induced hand cramps |
| http://purl.obolibrary.org/obo/UBERON_0005795 | embryonic uterus |
| HP:0003438 | Absent Achilles reflex |
| HP:0200101 | Decreased/absent ankle reflexes |
| HP:0002522 | Areflexia of lower limbs |
| HP:0001284 | Areflexia |
| HP:0001315 | Reduced tendon reflexes |
| HP:0031826 | Abnormal reflex |
| HP:0100022 | Abnormality of movement |
| HP:0000708 | Behavioral abnormality |
| http://purl.obolibrary.org/obo/UBERON_0005792 | nephric ridge |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0040131 | Abnormal motor nerve conduction velocity |
| HP:0003434 | Sensory ataxic neuropathy |
| http://purl.obolibrary.org/obo/UBERON_0015121 | left outer canthus |
| http://purl.obolibrary.org/obo/UBERON_0015120 | right outer canthus |
| http://purl.obolibrary.org/obo/UBERON_0006726 | outer canthus |
| http://purl.obolibrary.org/obo/UBERON_0006742 | canthus |
| http://purl.obolibrary.org/obo/UBERON_0007651 | anatomical junction |
| http://purl.obolibrary.org/obo/UBERON_0015122 | anatomical line between outer canthi |
| http://purl.obolibrary.org/obo/UBERON_0006800 | anatomical line |
| http://purl.obolibrary.org/obo/UBERON_0000015 | non-material anatomical boundary |
| http://purl.obolibrary.org/obo/UBERON_0000466 | immaterial anatomical entity |
| HP:0003440 | Horizontal sacrum |
| HP:0005107 | Abnormal sacrum morphology |
| HP:0003447 | Axonal loss |
| http://purl.obolibrary.org/obo/UBERON_0015129 | epicardial fat |
| http://purl.obolibrary.org/obo/UBERON_0003837 | thoracic segment connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0003586 | trunk connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0035814 | pericardial fat |
| http://purl.obolibrary.org/obo/UBERON_0035818 | visceral fat |
| http://purl.obolibrary.org/obo/UBERON_0001013 | adipose tissue |
| HP:0003449 | Cold-induced muscle cramps |
| HP:0003394 | Muscle spasm |
| http://purl.obolibrary.org/obo/UBERON_0015128 | subepicardial layer of epicardium |
| http://purl.obolibrary.org/obo/UBERON_0007188 | mesothelium of serous pericardium |
| http://purl.obolibrary.org/obo/UBERON_0003388 | mesothelium of pericardial cavity |
| http://purl.obolibrary.org/obo/UBERON_0001136 | mesothelium |
| http://purl.obolibrary.org/obo/UBERON_0012275 | meso-epithelium |
| http://purl.obolibrary.org/obo/UBERON_0000487 | simple squamous epithelium |
| http://purl.obolibrary.org/obo/UBERON_0006914 | squamous epithelium |
| http://purl.obolibrary.org/obo/UBERON_0000490 | unilaminar epithelium |
| HP:0003448 | Decreased sensory nerve conduction velocity |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0040132 | Abnormal sensory nerve conduction velocity |
| HP:0040129 | Abnormal nerve conduction velocity |
| HP:0003134 | Abnormality of peripheral nerve conduction |
| HP:0030177 | Abnormality of peripheral nervous system electrophysiology |
| HP:0001311 | Abnormal nervous system electrophysiology |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0003445 | EMG: neuropathic changes |
| http://purl.obolibrary.org/obo/UBERON_0015130 | connective tissue of prostate gland |
| http://purl.obolibrary.org/obo/UBERON_0000077 | mixed endoderm/mesoderm-derived structure |
| http://purl.obolibrary.org/obo/UBERON_0011822 | dense irregular connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0011821 | irregular connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0011823 | dense connective tissue |
| http://purl.obolibrary.org/obo/UBERON_0002384 | connective tissue |
| HP:0003450 | Axonal regeneration |
| HP:0000764 | Peripheral axonal degeneration |
| HP:0003452 | Increased serum iron |
| HP:0040130 | Abnormal serum iron concentration |
| HP:0011031 | Abnormality of iron homeostasis |
| HP:0011030 | Abnormal blood transition element cation concentration |
| HP:0010929 | Abnormal blood cation concentration |
| HP:0003111 | Abnormal blood ion concentration |
| http://www.informatics.jax.org/marker/MGI:2151253 | Calca (mouse) |
| HP:0003451 | Increased rate of premature chromosome condensation |
| HP:0011019 | Abnormality of chromosome condensation |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003198 | Myopathy |
| HP:0011805 | Abnormal skeletal muscle morphology |
| HP:0003459 | Polyclonal elevation of IgM |
| HP:0003496 | Increased circulating IgM level |
| HP:0010702 | Increased circulating antibody level |
| HP:0410243 | Abnormal circulating IgM level |
| HP:0010701 | Abnormal immunoglobulin level |
| HP:0005372 | Abnormality of B cell physiology |
| HP:0031409 | Abnormal lymphocyte physiology |
| HP:0011017 | Abnormal cellular physiology |
| HP:0025354 | Abnormal cellular phenotype |
| HP:0005368 | Abnormality of humoral immunity |
| HP:0003454 | Platelet antibody positive |
| HP:0003453 | Antineutrophil antibody positivity |
| HP:0030057 | Autoimmune antibody positivity |
| HP:0002960 | Autoimmunity |
| HP:0010978 | Abnormality of immune system physiology |
| HP:0002715 | Abnormality of the immune system |
| HP:0003456 | Low urinary cyclic AMP response to PTH administration |
| HP:0003110 | Abnormality of urine homeostasis |
| HP:0011277 | Abnormality of the urinary system physiology |
| HP:0000079 | Abnormality of the urinary system |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0003455 | Elevated circulating long chain fatty acid concentration |
| HP:0010964 | Abnormal circulating long-chain fatty-acid concentration |
| HP:0004359 | Abnormal circulating fatty-acid concentration |
| HP:0010996 | Abnormal circulating monocarboxylic acid cocentration |
| HP:0004354 | Abnormal circulating carboxylic acid concentration |
| HP:0500165 | Abnormal blood oxygen level |
| HP:0012415 | Abnormal blood gas level |
| HP:0002795 | Functional respiratory abnormality |
| HP:0002086 | Abnormality of the respiratory system |
| HP:0003077 | Hyperlipidemia |
| HP:0003119 | Abnormal circulating lipid concentration |
| HP:0032180 | Abnormal circulating metabolite concentration |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0001871 | Abnormality of blood and blood-forming tissues |
| http://purl.obolibrary.org/obo/UBERON_0005749 | glomerular tuft |
| http://purl.obolibrary.org/obo/UBERON_0005745 | optic foramen |
| http://purl.obolibrary.org/obo/UBERON_0013685 | foramen of skull |
| http://purl.obolibrary.org/obo/UBERON_0015212 | lateral structure |
| http://purl.obolibrary.org/obo/UBERON_0005744 | bone foramen |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=11556 | TAL1 (human) |
| http://purl.obolibrary.org/obo/GO_0030168 | platelet activation |
| http://purl.obolibrary.org/obo/UBERON_0005740 | tunica intima of artery |
| http://purl.obolibrary.org/obo/UBERON_0002523 | tunica intima |
| http://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9053 | PLAUR (human) |
| http://purl.obolibrary.org/obo/SO_0001217 | protein_coding_gene |
| http://purl.obolibrary.org/obo/SO_0000704 | gene |
| http://purl.obolibrary.org/obo/SO_0000110 | sequence_feature |
| http://purl.obolibrary.org/obo/UBERON_0005754 | rostral part of nephrogenic cord |
| http://purl.obolibrary.org/obo/UBERON_0017732 | raphe of scrotum |
| http://purl.obolibrary.org/obo/UBERON_0005156 | reproductive structure |
| http://purl.obolibrary.org/obo/GO_0030182 | neuron differentiation |
| http://purl.obolibrary.org/obo/GO_0030183 | B cell differentiation |
| http://purl.obolibrary.org/obo/GO_0030098 | lymphocyte differentiation |
| http://purl.obolibrary.org/obo/GO_0002521 | leukocyte differentiation |
| http://purl.obolibrary.org/obo/UBERON_0005753 | caudal part of nephrogenic cord |
| http://purl.obolibrary.org/obo/UBERON_0003103 | compound organ |
| http://purl.obolibrary.org/obo/UBERON_0003107 | Meckel's cartilage |
| http://purl.obolibrary.org/obo/UBERON_0011004 | pharyngeal arch cartilage |
| http://purl.obolibrary.org/obo/UBERON_0003933 | cranial cartilage |
| http://purl.obolibrary.org/obo/CHEBI_22160 | acetamides |
| http://purl.obolibrary.org/obo/CHEBI_37622 | carboxamide |
| http://purl.obolibrary.org/obo/CHEBI_33256 | primary amide |
| http://purl.obolibrary.org/obo/CHEBI_32988 | amide |
| http://purl.obolibrary.org/obo/GO_0030195 | negative regulation of blood coagulation |
| http://purl.obolibrary.org/obo/GO_0061045 | negative regulation of wound healing |
| http://purl.obolibrary.org/obo/GO_1903035 | negative regulation of response to wounding |
| http://purl.obolibrary.org/obo/GO_0032102 | negative regulation of response to external stimulus |
| http://purl.obolibrary.org/obo/GO_0048585 | negative regulation of response to stimulus |
| http://purl.obolibrary.org/obo/GO_0050819 | negative regulation of coagulation |
| http://purl.obolibrary.org/obo/GO_0051241 | negative regulation of multicellular organismal process |
| http://purl.obolibrary.org/obo/GO_1900047 | negative regulation of hemostasis |
| http://purl.obolibrary.org/obo/UBERON_0003100 | female organism |
| http://purl.obolibrary.org/obo/UBERON_0003101 | male organism |
| http://purl.obolibrary.org/obo/UBERON_0000468 | multicellular organism |
| http://purl.obolibrary.org/obo/GO_0030194 | positive regulation of blood coagulation |
| http://purl.obolibrary.org/obo/GO_1900048 | positive regulation of hemostasis |
| http://purl.obolibrary.org/obo/GO_0050820 | positive regulation of coagulation |
| http://purl.obolibrary.org/obo/GO_0090303 | positive regulation of wound healing |
| http://purl.obolibrary.org/obo/GO_1903036 | positive regulation of response to wounding |
| http://purl.obolibrary.org/obo/GO_0048584 | positive regulation of response to stimulus |
| http://purl.obolibrary.org/obo/GO_0030193 | regulation of blood coagulation |
| http://purl.obolibrary.org/obo/GO_0050818 | regulation of coagulation |
| http://purl.obolibrary.org/obo/GO_1900046 | regulation of hemostasis |
| http://purl.obolibrary.org/obo/GO_0050878 | regulation of body fluid levels |
| http://purl.obolibrary.org/obo/GO_0032101 | regulation of response to external stimulus |
| http://purl.obolibrary.org/obo/GO_0061041 | regulation of wound healing |
| http://purl.obolibrary.org/obo/GO_1903034 | regulation of response to wounding |
| http://purl.obolibrary.org/obo/GO_0080134 | regulation of response to stress |
| http://purl.obolibrary.org/obo/GO_0048583 | regulation of response to stimulus |
| http://purl.obolibrary.org/obo/UBERON_0003102 | surface structure |
| http://purl.obolibrary.org/obo/UBERON_0017748 | lower primary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0016476 | primary incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0018617 | primary lower tooth |
| http://purl.obolibrary.org/obo/UBERON_0007115 | deciduous tooth |
| http://purl.obolibrary.org/obo/UBERON_0003451 | lower jaw incisor |
| http://purl.obolibrary.org/obo/UBERON_0001098 | incisor tooth |
| http://purl.obolibrary.org/obo/UBERON_0003268 | tooth of lower jaw |
| http://purl.obolibrary.org/obo/UBERON_0013765 | digestive system element |
| http://purl.obolibrary.org/obo/UBERON_0001091 | calcareous tooth |
| http://purl.obolibrary.org/obo/UBERON_0003913 | tooth-like structure |
| http://purl.obolibrary.org/obo/UBERON_0005777 | glomerular basement membrane |
| http://purl.obolibrary.org/obo/UBERON_0005769 | basement membrane of epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005764 | acellular membrane |
| http://purl.obolibrary.org/obo/UBERON_0000476 | acellular anatomical structure |
| http://purl.obolibrary.org/obo/UBERON_0003114 | pharyngeal arch 3 |
| http://purl.obolibrary.org/obo/UBERON_0003115 | pharyngeal arch 4 |
| http://purl.obolibrary.org/obo/UBERON_0003117 | pharyngeal arch 6 |
| http://purl.obolibrary.org/obo/UBERON_0002539 | pharyngeal arch |
| http://purl.obolibrary.org/obo/UBERON_0010188 | protuberance |
| http://purl.obolibrary.org/obo/UBERON_0034944 | zone of organ |
| http://purl.obolibrary.org/obo/UBERON_0003118 | pharyngeal arch artery 1 |
| http://purl.obolibrary.org/obo/UBERON_0003119 | pharyngeal arch artery 2 |
| http://purl.obolibrary.org/obo/UBERON_0004363 | pharyngeal arch artery |
| http://purl.obolibrary.org/obo/UBERON_0003496 | head blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003469 | respiratory system artery |
| http://purl.obolibrary.org/obo/UBERON_0003643 | respiratory system arterial blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003504 | respiratory system blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003110 | otic region |
| http://purl.obolibrary.org/obo/UBERON_0003111 | sphenoid region |
| http://purl.obolibrary.org/obo/UBERON_0003112 | olfactory region |
| http://purl.obolibrary.org/obo/UBERON_0034921 | multi organ part structure |
| http://purl.obolibrary.org/obo/UBERON_0003113 | dermatocranium |
| http://purl.obolibrary.org/obo/UBERON_0011159 | primary subdivision of cranial skeletal system |
| http://purl.obolibrary.org/obo/UBERON_0000075 | subdivision of skeletal system |
| http://purl.obolibrary.org/obo/UBERON_0011216 | organ system subdivision |
| http://purl.obolibrary.org/obo/PR_Q9Z0D9 | CX3C chemokine receptor 1 (mouse) |
| http://purl.obolibrary.org/obo/PR_000001206 | CX3C chemokine receptor 1 |
| http://purl.obolibrary.org/obo/PR_000001128 | chemokine receptor |
| http://purl.obolibrary.org/obo/PR_000001094 | rhodopsin-like G-protein coupled receptor |
| http://purl.obolibrary.org/obo/PR_000030035 | G-protein coupled receptor |
| http://purl.obolibrary.org/obo/PR_000029032 | Mus musculus protein |
| http://purl.obolibrary.org/obo/UBERON_0005705 | primary palate mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0005704 | secondary palatal shelf mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0005702 | optic eminence mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0005701 | lower jaw molar odontogenic papilla |
| http://purl.obolibrary.org/obo/UBERON_0005700 | upper jaw molar odontogenic papilla |
| http://purl.obolibrary.org/obo/UBERON_0015844 | molar dental papilla |
| http://purl.obolibrary.org/obo/UBERON_0005709 | upper jaw incisor epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003235 | epithelium of upper jaw |
| http://purl.obolibrary.org/obo/UBERON_0005708 | lower jaw incisor odontogenic papilla |
| http://purl.obolibrary.org/obo/UBERON_0003324 | mesenchyme of lower jaw |
| http://purl.obolibrary.org/obo/UBERON_0005707 | upper jaw incisor odontogenic papilla |
| http://purl.obolibrary.org/obo/UBERON_0003323 | mesenchyme of upper jaw |
| http://purl.obolibrary.org/obo/UBERON_0034995 | jaw mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0009891 | facial mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0003317 | odontogenic papilla of incisor |
| http://purl.obolibrary.org/obo/UBERON_0001763 | odontogenic papilla |
| http://purl.obolibrary.org/obo/UBERON_0010258 | mesenchyme from rhombencephalic neural crest |
| http://purl.obolibrary.org/obo/UBERON_0007213 | mesenchyme derived from head neural crest |
| http://purl.obolibrary.org/obo/UBERON_0014387 | mesenchyme derived from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0005253 | head mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0005712 | midgut duodenum mesentery |
| http://purl.obolibrary.org/obo/UBERON_0003284 | mesentery of midgut |
| http://purl.obolibrary.org/obo/UBERON_0005711 | foregut duodenum mesentery |
| http://purl.obolibrary.org/obo/UBERON_0003397 | mesentery of duodenum |
| http://purl.obolibrary.org/obo/UBERON_0003336 | serosa of duodenum |
| http://purl.obolibrary.org/obo/UBERON_0001170 | mesentery of small intestine |
| http://purl.obolibrary.org/obo/UBERON_0004854 | gastrointestinal system mesentery |
| http://purl.obolibrary.org/obo/UBERON_0007826 | peritoneal mesentery |
| http://purl.obolibrary.org/obo/UBERON_0002358 | peritoneum |
| http://purl.obolibrary.org/obo/UBERON_0002095 | mesentery |
| http://purl.obolibrary.org/obo/UBERON_0001206 | serosa of small intestine |
| http://purl.obolibrary.org/obo/UBERON_0001243 | serosa of intestine |
| http://purl.obolibrary.org/obo/UBERON_0004782 | gastrointestinal system serosa |
| http://purl.obolibrary.org/obo/UBERON_0000042 | serous membrane |
| http://purl.obolibrary.org/obo/UBERON_0000481 | multi-tissue structure |
| http://purl.obolibrary.org/obo/UBERON_0005710 | lower jaw incisor epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003355 | epithelium of incisor |
| http://purl.obolibrary.org/obo/UBERON_0003236 | epithelium of lower jaw |
| http://purl.obolibrary.org/obo/UBERON_0035037 | jaw epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003929 | digestive tract epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003843 | dental epithelium |
| http://purl.obolibrary.org/obo/UBERON_0005719 | footplate apical ectodermal ridge |
| http://purl.obolibrary.org/obo/UBERON_0004356 | apical ectodermal ridge |
| http://purl.obolibrary.org/obo/CARO_0000003 | connected anatomical structure |
| http://purl.obolibrary.org/obo/CARO_0000006 | material anatomical entity |
| http://purl.obolibrary.org/obo/CHEBI_58126 | porphobilinogen(1-) |
| http://purl.obolibrary.org/obo/CHEBI_35693 | dicarboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_58123 | (2S)-2-hydroxy monocarboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_36059 | hydroxy monocarboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_35757 | monocarboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_29067 | carboxylic acid anion |
| http://purl.obolibrary.org/obo/CHEBI_35406 | oxoanion |
| http://purl.obolibrary.org/obo/CHEBI_33273 | polyatomic anion |
| http://purl.obolibrary.org/obo/CHEBI_36358 | polyatomic ion |
| http://purl.obolibrary.org/obo/CHEBI_25741 | oxide |
| http://purl.obolibrary.org/obo/CHEBI_25696 | organic anion |
| http://purl.obolibrary.org/obo/CHEBI_25699 | organic ion |
| http://purl.obolibrary.org/obo/CHEBI_22563 | anion |
| http://purl.obolibrary.org/obo/CHEBI_24870 | ion |
| http://purl.obolibrary.org/obo/UBERON_0005728 | extraembryonic mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0005292 | extraembryonic tissue |
| http://purl.obolibrary.org/obo/UBERON_0005725 | olfactory system |
| http://purl.obolibrary.org/obo/UBERON_0005726 | chemosensory system |
| http://purl.obolibrary.org/obo/UBERON_0001032 | sensory system |
| http://purl.obolibrary.org/obo/UBERON_0005724 | roof plate spinal cord region |
| http://purl.obolibrary.org/obo/UBERON_0005721 | pronephric mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0000926 | mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0000923 | germ layer |
| http://purl.obolibrary.org/obo/UBERON_0010316 | germ layer / neural crest |
| http://purl.obolibrary.org/obo/UBERON_0005729 | pectoral appendage field |
| http://purl.obolibrary.org/obo/UBERON_0005720 | hindbrain venous system |
| http://purl.obolibrary.org/obo/UBERON_0004582 | venous system |
| http://purl.obolibrary.org/obo/UBERON_0007798 | vascular system |
| http://purl.obolibrary.org/obo/UBERON_0000467 | anatomical system |
| http://purl.obolibrary.org/obo/UBERON_0005734 | tunica adventitia of blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0005742 | adventitia |
| http://purl.obolibrary.org/obo/UBERON_0004797 | blood vessel layer |
| http://purl.obolibrary.org/obo/UBERON_0004923 | organ component layer |
| http://purl.obolibrary.org/obo/UBERON_0000064 | organ part |
| http://purl.obolibrary.org/obo/UBERON_0005733 | limb field |
| http://purl.obolibrary.org/obo/UBERON_0005730 | pelvic appendage field |
| http://purl.obolibrary.org/obo/UBERON_0006598 | presumptive structure |
| http://purl.obolibrary.org/obo/UBERON_0005732 | paired limb/fin field |
| http://purl.obolibrary.org/obo/UBERON_0007688 | anlage |
| http://purl.obolibrary.org/obo/UBERON_0017716 | thenar eminence |
| http://purl.obolibrary.org/obo/UBERON_0017717 | hypothenar eminence |
| http://purl.obolibrary.org/obo/UBERON_0034929 | external soft tissue zone |
| http://purl.obolibrary.org/obo/PR_000048927 | PR:000048927 located_in GO:0005576 |
| http://purl.obolibrary.org/obo/PR_000021095 | prolactin, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_P01236 | prolactin (human) |
| http://purl.obolibrary.org/obo/PR_000013246 | prolactin |
| http://purl.obolibrary.org/obo/PR_000029968 | somatotropin hormone family member |
| http://purl.obolibrary.org/obo/CHEBI_24712 | hydroxymethyl group |
| http://purl.obolibrary.org/obo/CHEBI_50325 | proteinogenic amino-acid side-chain group |
| http://purl.obolibrary.org/obo/CHEBI_33249 | organyl group |
| http://purl.obolibrary.org/obo/CHEBI_51447 | organic univalent group |
| http://purl.obolibrary.org/obo/CHEBI_33247 | organic group |
| http://purl.obolibrary.org/obo/CHEBI_24433 | group |
| http://purl.obolibrary.org/obo/GO_0044706 | multi-multicellular organism process |
| http://purl.obolibrary.org/obo/GO_0032501 | multicellular organismal process |
| http://purl.obolibrary.org/obo/GO_0044703 | multi-organism reproductive process |
| http://purl.obolibrary.org/obo/GO_0051704 | multi-organism process |
| http://purl.obolibrary.org/obo/GO_0022414 | reproductive process |
| http://purl.obolibrary.org/obo/GO_0032769 | negative regulation of monooxygenase activity |
| http://purl.obolibrary.org/obo/GO_0051354 | negative regulation of oxidoreductase activity |
| http://purl.obolibrary.org/obo/GO_0043086 | negative regulation of catalytic activity |
| http://purl.obolibrary.org/obo/GO_0044092 | negative regulation of molecular function |
| http://purl.obolibrary.org/obo/GO_0032770 | positive regulation of monooxygenase activity |
| http://purl.obolibrary.org/obo/GO_0051353 | positive regulation of oxidoreductase activity |
| http://purl.obolibrary.org/obo/GO_0043085 | positive regulation of catalytic activity |
| http://purl.obolibrary.org/obo/GO_0044093 | positive regulation of molecular function |
| http://purl.obolibrary.org/obo/GO_0032768 | regulation of monooxygenase activity |
| http://purl.obolibrary.org/obo/GO_0051341 | regulation of oxidoreductase activity |
| http://purl.obolibrary.org/obo/GO_0050790 | regulation of catalytic activity |
| http://purl.obolibrary.org/obo/GO_0065009 | regulation of molecular function |
| http://purl.obolibrary.org/obo/CHEBI_48706 | antagonist |
| http://purl.obolibrary.org/obo/CHEBI_48705 | agonist |
| http://purl.obolibrary.org/obo/CHEBI_52210 | pharmacological role |
| http://purl.obolibrary.org/obo/CHEBI_24432 | biological role |
| http://purl.obolibrary.org/obo/CHEBI_50906 | role |
| http://purl.obolibrary.org/obo/GO_0017145 | stem cell division |
| http://purl.obolibrary.org/obo/GO_0051301 | cell division |
| http://purl.obolibrary.org/obo/GO_0017144 | drug metabolic process |
| http://purl.obolibrary.org/obo/CHEBI_36711 | phosphoethanolamine |
| http://purl.obolibrary.org/obo/CHEBI_37734 | phosphoric ester |
| http://purl.obolibrary.org/obo/CHEBI_35701 | ester |
| http://purl.obolibrary.org/obo/CHEBI_36963 | organooxygen compound |
| http://purl.obolibrary.org/obo/CHEBI_25806 | oxygen molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_36962 | organochalcogen compound |
| http://purl.obolibrary.org/obo/CHEBI_33304 | chalcogen molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_25703 | organic phosphate |
| http://purl.obolibrary.org/obo/CHEBI_26020 | phosphate |
| http://purl.obolibrary.org/obo/CHEBI_26079 | phosphoric acid derivative |
| http://purl.obolibrary.org/obo/CHEBI_36359 | phosphorus oxoacid derivative |
| http://purl.obolibrary.org/obo/CHEBI_33241 | oxoacid derivative |
| http://purl.obolibrary.org/obo/CHEBI_37577 | heteroatomic molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_36360 | phosphorus oxoacids and derivatives |
| http://purl.obolibrary.org/obo/CHEBI_25710 | organophosphorus compound |
| http://purl.obolibrary.org/obo/CHEBI_26082 | phosphorus molecular entity |
| http://purl.obolibrary.org/obo/GO_0017148 | negative regulation of translation |
| http://purl.obolibrary.org/obo/GO_0010629 | negative regulation of gene expression |
| http://purl.obolibrary.org/obo/GO_0032269 | negative regulation of cellular protein metabolic process |
| http://purl.obolibrary.org/obo/GO_0051248 | negative regulation of protein metabolic process |
| http://purl.obolibrary.org/obo/GO_0034249 | negative regulation of cellular amide metabolic process |
| http://purl.obolibrary.org/obo/GO_0051172 | negative regulation of nitrogen compound metabolic process |
| http://purl.obolibrary.org/obo/GO_2000113 | negative regulation of cellular macromolecule biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0010558 | negative regulation of macromolecule biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0010605 | negative regulation of macromolecule metabolic process |
| http://purl.obolibrary.org/obo/GO_0031327 | negative regulation of cellular biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0009890 | negative regulation of biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0031324 | negative regulation of cellular metabolic process |
| http://purl.obolibrary.org/obo/GO_0009892 | negative regulation of metabolic process |
| http://purl.obolibrary.org/obo/GO_0006417 | regulation of translation |
| http://purl.obolibrary.org/obo/GO_0032268 | regulation of cellular protein metabolic process |
| http://purl.obolibrary.org/obo/GO_0051246 | regulation of protein metabolic process |
| http://purl.obolibrary.org/obo/GO_0034248 | regulation of cellular amide metabolic process |
| http://purl.obolibrary.org/obo/GO_0051171 | regulation of nitrogen compound metabolic process |
| http://purl.obolibrary.org/obo/GO_2000112 | regulation of cellular macromolecule biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0010556 | regulation of macromolecule biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0031326 | regulation of cellular biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0009889 | regulation of biosynthetic process |
| http://purl.obolibrary.org/obo/GO_0010608 | posttranscriptional regulation of gene expression |
| http://purl.obolibrary.org/obo/GO_0032787 | monocarboxylic acid metabolic process |
| http://purl.obolibrary.org/obo/PR_000046307 | PR:000046307 located_in GO:0005576 |
| http://purl.obolibrary.org/obo/PR_000018949 | serum albumin, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_P02768 | serum albumin (human) |
| http://purl.obolibrary.org/obo/PR_000003918 | serum albumin |
| http://purl.obolibrary.org/obo/PR_000048962 | PR:000048962 located_in GO:0005886 |
| http://purl.obolibrary.org/obo/PR_P08575 | receptor-type tyrosine-protein phosphatase C (human) |
| http://purl.obolibrary.org/obo/PR_000018306 | receptor-type tyrosine-protein phosphatase C, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000001006 | receptor-type tyrosine-protein phosphatase C |
| http://purl.obolibrary.org/obo/CHEBI_36735 | biladienes |
| http://purl.obolibrary.org/obo/CHEBI_25046 | linear tetrapyrrole |
| http://purl.obolibrary.org/obo/CHEBI_26932 | tetrapyrrole |
| http://purl.obolibrary.org/obo/CHEBI_38077 | polypyrrole |
| http://purl.obolibrary.org/obo/GO_0030141 | secretory granule |
| http://purl.obolibrary.org/obo/GO_0099503 | secretory vesicle |
| http://purl.obolibrary.org/obo/GO_0031410 | cytoplasmic vesicle |
| http://purl.obolibrary.org/obo/GO_0097708 | intracellular vesicle |
| http://purl.obolibrary.org/obo/GO_0031982 | vesicle |
| http://purl.obolibrary.org/obo/GO_0043227 | membrane-bounded organelle |
| http://purl.obolibrary.org/obo/GO_0043229 | intracellular organelle |
| http://purl.obolibrary.org/obo/GO_0043226 | organelle |
| http://purl.obolibrary.org/obo/GO_0110165 | cellular anatomical entity |
| http://purl.obolibrary.org/obo/GO_0017168 | 5-oxoprolinase (ATP-hydrolyzing) activity |
| http://purl.obolibrary.org/obo/GO_0016812 | 4-imidazolone-5-propionate + H2O => N-formiminoglutamate + 2H+ |
| http://purl.obolibrary.org/obo/GO_0016810 | NAAA hydrolyses NAEs to FAs and ethanolamine |
| http://purl.obolibrary.org/obo/GO_0016787 | ABHD14B hydrolyses PNPB |
| http://purl.obolibrary.org/obo/CHEBI_24780 | imidazoles |
| http://purl.obolibrary.org/obo/CHEBI_23677 | diazole |
| http://purl.obolibrary.org/obo/CHEBI_68452 | azole |
| http://purl.obolibrary.org/obo/CHEBI_38101 | organonitrogen heterocyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_38179 | monocyclic heteroarene |
| http://purl.obolibrary.org/obo/CHEBI_33833 | heteroarene |
| http://purl.obolibrary.org/obo/CHEBI_33659 | organic aromatic compound |
| http://purl.obolibrary.org/obo/CHEBI_33655 | aromatic compound |
| http://purl.obolibrary.org/obo/CHEBI_24532 | organic heterocyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_5686 | heterocyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_33832 | organic cyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_72695 | organic molecule |
| http://purl.obolibrary.org/obo/CHEBI_33595 | cyclic compound |
| http://purl.obolibrary.org/obo/CHEBI_25367 | molecule |
| http://purl.obolibrary.org/obo/CHEBI_36357 | polyatomic entity |
| http://purl.obolibrary.org/obo/CHEBI_12777 | vitamin A |
| http://purl.obolibrary.org/obo/CHEBI_26537 | retinoid |
| http://purl.obolibrary.org/obo/CHEBI_23849 | diterpenoid |
| http://purl.obolibrary.org/obo/CHEBI_26873 | terpenoid |
| http://purl.obolibrary.org/obo/CHEBI_24913 | isoprenoid |
| http://purl.obolibrary.org/obo/CHEBI_18059 | lipid |
| http://purl.obolibrary.org/obo/PR_000010379 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
| http://purl.obolibrary.org/obo/PR_000046326 | PR:000046326 located_in GO:0030133 |
| http://purl.obolibrary.org/obo/PR_P05187 | alkaline phosphatase, placental type (human) |
| http://purl.obolibrary.org/obo/PR_000029067 | Homo sapiens protein |
| http://purl.obolibrary.org/obo/PR_000036194 | eukaryotic protein |
| http://purl.obolibrary.org/obo/PR_000018968 | alkaline phosphatase, placental type, signal peptide removed form |
| http://purl.obolibrary.org/obo/PR_000003969 | alkaline phosphatase, placental type |
| http://purl.obolibrary.org/obo/PR_000000001 | protein |
| http://purl.obolibrary.org/obo/PR_000018263 | amino acid chain |
| http://purl.obolibrary.org/obo/CHEBI_50047 | organic amino compound |
| http://purl.obolibrary.org/obo/CHEBI_35352 | organonitrogen compound |
| http://purl.obolibrary.org/obo/CHEBI_33285 | heteroorganic entity |
| http://purl.obolibrary.org/obo/CHEBI_50860 | organic molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33582 | carbon group molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_51143 | nitrogen molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33302 | pnictogen molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33675 | p-block molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_33579 | main group molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_23367 | molecular entity |
| http://purl.obolibrary.org/obo/CHEBI_24431 | chemical entity |
| http://purl.obolibrary.org/obo/GO_0030154 | cell differentiation |
| http://purl.obolibrary.org/obo/GO_0048869 | cellular developmental process |
| http://purl.obolibrary.org/obo/GO_0032502 | developmental process |
| http://purl.obolibrary.org/obo/GO_0042133 | neurotransmitter metabolic process |
| http://purl.obolibrary.org/obo/GO_0001505 | regulation of neurotransmitter levels |
| http://purl.obolibrary.org/obo/GO_0042130 | negative regulation of T cell proliferation |
| http://purl.obolibrary.org/obo/GO_0050672 | negative regulation of lymphocyte proliferation |
| http://purl.obolibrary.org/obo/GO_0032945 | negative regulation of mononuclear cell proliferation |
| http://purl.obolibrary.org/obo/GO_0070664 | negative regulation of leukocyte proliferation |
| http://purl.obolibrary.org/obo/GO_0008285 | negative regulation of cell population proliferation |
| http://purl.obolibrary.org/obo/GO_0050868 | negative regulation of T cell activation |
| http://purl.obolibrary.org/obo/GO_1903038 | negative regulation of leukocyte cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0022408 | negative regulation of cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0007162 | negative regulation of cell adhesion |
| http://purl.obolibrary.org/obo/GO_0051250 | negative regulation of lymphocyte activation |
| http://purl.obolibrary.org/obo/GO_0002695 | negative regulation of leukocyte activation |
| http://purl.obolibrary.org/obo/GO_0050866 | negative regulation of cell activation |
| http://purl.obolibrary.org/obo/GO_0048523 | negative regulation of cellular process |
| http://purl.obolibrary.org/obo/GO_0002683 | negative regulation of immune system process |
| http://purl.obolibrary.org/obo/GO_0048519 | negative regulation of biological process |
| http://purl.obolibrary.org/obo/GO_0019725 | cellular homeostasis |
| http://purl.obolibrary.org/obo/GO_0042592 | homeostatic process |
| http://purl.obolibrary.org/obo/GO_0065008 | regulation of biological quality |
| HP:0003406 | Peripheral nerve compression |
| http://purl.obolibrary.org/obo/GO_0044782 | cilium organization |
| http://purl.obolibrary.org/obo/GO_0006996 | organelle organization |
| http://purl.obolibrary.org/obo/GO_0120036 | plasma membrane bounded cell projection organization |
| http://purl.obolibrary.org/obo/GO_0030030 | cell projection organization |
| http://purl.obolibrary.org/obo/GO_0016043 | cellular component organization |
| http://purl.obolibrary.org/obo/GO_0071840 | cellular component organization or biogenesis |
| HP:0003409 | Distal sensory impairment of all modalities |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0100285 | EMG: impaired neuromuscular transmission |
| HP:0003457 | EMG abnormality |
| HP:0011804 | Abnormal muscle physiology |
| HP:0003011 | Abnormality of the musculature |
| HP:0003402 | Decreased miniature endplate potentials |
| HP:0003398 | Abnormal synaptic transmission at the neuromuscular junction |
| HP:0030191 | Abnormal peripheral nervous system synaptic transmission |
| HP:0012535 | Abnormal synaptic transmission |
| HP:0012638 | Abnormal nervous system physiology |
| HP:0003405 | Diffuse axonal swelling |
| http://purl.obolibrary.org/obo/GO_0042110 | T cell activation |
| HP:0003401 | Paresthesia |
| HP:0000763 | Sensory neuropathy |
| HP:0045010 | Abnormality of peripheral nerves |
| HP:0009830 | Peripheral neuropathy |
| HP:0003400 | Basal lamina onion bulb formation |
| HP:0003383 | Onion bulb formation |
| HP:0003130 | Abnormal peripheral myelination |
| HP:0012447 | Abnormal myelination |
| HP:0000759 | Abnormal peripheral nervous system morphology |
| HP:0410008 | Abnormality of the peripheral nervous system |
| HP:0003417 | Coronal cleft vertebrae |
| HP:0008428 | Vertebral clefting |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0003468 | Abnormal vertebral morphology |
| HP:0003419 | Low back pain |
| HP:0003418 | Back pain |
| HP:0012531 | Pain |
| HP:0025142 | Constitutional symptom |
| HP:0003414 | Atlantoaxial dislocation |
| http://purl.obolibrary.org/obo/GO_0042102 | positive regulation of T cell proliferation |
| http://purl.obolibrary.org/obo/GO_0050870 | positive regulation of T cell activation |
| http://purl.obolibrary.org/obo/GO_1903039 | positive regulation of leukocyte cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0022409 | positive regulation of cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0045785 | positive regulation of cell adhesion |
| http://purl.obolibrary.org/obo/GO_1903037 | regulation of leukocyte cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0022407 | regulation of cell-cell adhesion |
| http://purl.obolibrary.org/obo/GO_0030155 | regulation of cell adhesion |
| http://purl.obolibrary.org/obo/GO_0050671 | positive regulation of lymphocyte proliferation |
| http://purl.obolibrary.org/obo/GO_0051251 | positive regulation of lymphocyte activation |
| http://purl.obolibrary.org/obo/GO_0002696 | positive regulation of leukocyte activation |
| http://purl.obolibrary.org/obo/GO_0050867 | positive regulation of cell activation |
| http://purl.obolibrary.org/obo/GO_0002684 | positive regulation of immune system process |
| http://purl.obolibrary.org/obo/GO_0032946 | positive regulation of mononuclear cell proliferation |
| http://purl.obolibrary.org/obo/GO_0070665 | positive regulation of leukocyte proliferation |
| http://purl.obolibrary.org/obo/GO_0008284 | positive regulation of cell population proliferation |
| http://purl.obolibrary.org/obo/GO_0048522 | positive regulation of cellular process |
| http://purl.obolibrary.org/obo/GO_0042129 | regulation of T cell proliferation |
| http://purl.obolibrary.org/obo/GO_0050670 | regulation of lymphocyte proliferation |
| http://purl.obolibrary.org/obo/GO_0032944 | regulation of mononuclear cell proliferation |
| http://purl.obolibrary.org/obo/GO_0070663 | regulation of leukocyte proliferation |
| http://purl.obolibrary.org/obo/GO_0042127 | regulation of cell population proliferation |
| http://purl.obolibrary.org/obo/GO_0050863 | regulation of T cell activation |
| http://purl.obolibrary.org/obo/GO_0051249 | regulation of lymphocyte activation |
| http://purl.obolibrary.org/obo/GO_0002694 | regulation of leukocyte activation |
| http://purl.obolibrary.org/obo/GO_0002682 | regulation of immune system process |
| http://purl.obolibrary.org/obo/GO_0050865 | regulation of cell activation |
| HP:0003413 | Atlantoaxial abnormality |
| HP:0003416 | Spinal canal stenosis |
| HP:0000925 | Abnormality of the vertebral column |
| HP:0009121 | Abnormal axial skeleton morphology |
| HP:0002143 | Abnormality of the spinal cord |
| HP:0002011 | Morphological central nervous system abnormality |
| HP:0012639 | Abnormal nervous system morphology |
| HP:0000707 | Abnormality of the nervous system |
| http://purl.obolibrary.org/obo/GO_0042100 | B cell proliferation |
| http://purl.obolibrary.org/obo/GO_0046651 | lymphocyte proliferation |
| http://purl.obolibrary.org/obo/GO_0032943 | mononuclear cell proliferation |
| http://purl.obolibrary.org/obo/GO_0070661 | leukocyte proliferation |
| http://purl.obolibrary.org/obo/GO_0008283 | cell population proliferation |
| http://purl.obolibrary.org/obo/GO_0042113 | B cell activation |
| http://purl.obolibrary.org/obo/GO_0046649 | lymphocyte activation |
| http://purl.obolibrary.org/obo/GO_0045321 | leukocyte activation |
| http://purl.obolibrary.org/obo/GO_0001775 | cell activation |
| http://purl.obolibrary.org/obo/GO_0019724 | B cell mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002449 | lymphocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002443 | leukocyte mediated immunity |
| http://purl.obolibrary.org/obo/GO_0002252 | immune effector process |
| http://purl.obolibrary.org/obo/GO_0002460 | adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains |
| http://purl.obolibrary.org/obo/GO_0002250 | adaptive immune response |
| http://purl.obolibrary.org/obo/GO_0006955 | immune response |
| http://purl.obolibrary.org/obo/GO_0002376 | immune system process |
| http://purl.obolibrary.org/obo/GO_0050896 | response to stimulus |
| http://purl.obolibrary.org/obo/GO_0042105 | alpha-beta T cell receptor complex |
| http://purl.obolibrary.org/obo/GO_0042101 | T cell receptor complex |
| http://purl.obolibrary.org/obo/GO_0098802 | plasma membrane signaling receptor complex |
| http://purl.obolibrary.org/obo/GO_0043235 | receptor complex |
| http://purl.obolibrary.org/obo/GO_0098797 | plasma membrane protein complex |
| http://purl.obolibrary.org/obo/GO_0098796 | membrane protein complex |
| http://purl.obolibrary.org/obo/GO_0032991 | protein-containing complex |
| http://purl.obolibrary.org/obo/GO_0005575 | cellular_component |
| http://purl.obolibrary.org/obo/BFO_0000030 | object |
| HP:0003411 | Proximal femoral metaphyseal irregularity |
| HP:0030291 | Lower-limb metaphyseal irregularity |
| HP:0003025 | Metaphyseal irregularity |
| HP:0006431 | Proximal femoral metaphyseal abnormality |
| HP:0006489 | Abnormality of the femoral metaphysis |
| HP:0006490 | Abnormality of lower-limb metaphyses |
| HP:0000944 | Abnormality of the metaphysis |
| HP:0003366 | Abnormality of the femoral neck or head region |
| HP:0002823 | Abnormality of femur morphology |
| HP:0011314 | Abnormality of long bone morphology |
| HP:0040069 | Abnormal lower limb bone morphology |
| HP:0002814 | Abnormality of the lower limb |
| HP:0002813 | Abnormality of limb bone morphology |
| HP:0011844 | Abnormal appendicular skeleton morphology |
| HP:0011842 | Abnormality of skeletal morphology |
| HP:0040068 | Abnormality of limb bone |
| HP:0040064 | Abnormality of limbs |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000118 | Phenotypic abnormality |
| HP:0000001 | All |
| http://purl.obolibrary.org/obo/GO_0019747 | regulation of isoprenoid metabolic process |
| http://purl.obolibrary.org/obo/GO_0031323 | regulation of cellular metabolic process |
| http://purl.obolibrary.org/obo/GO_0050794 | regulation of cellular process |
| http://purl.obolibrary.org/obo/GO_0019216 | regulation of lipid metabolic process |
| http://purl.obolibrary.org/obo/GO_0080090 | regulation of primary metabolic process |
| http://purl.obolibrary.org/obo/GO_0019748 | secondary metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0015069 | distal carpal cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0015068 | distal carpal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0018100 | distal mesopodial cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0015060 | sphenoid endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0010313 | neural crest-derived structure |
| http://purl.obolibrary.org/obo/UBERON_0003084 | heart primordium |
| http://purl.obolibrary.org/obo/UBERON_0003086 | caudal artery |
| http://purl.obolibrary.org/obo/UBERON_0003524 | tail blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0003513 | trunk blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0004573 | systemic artery |
| http://purl.obolibrary.org/obo/UBERON_0001637 | artery |
| http://purl.obolibrary.org/obo/UBERON_0003509 | arterial blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0001981 | blood vessel |
| http://purl.obolibrary.org/obo/UBERON_0000055 | vessel |
| http://purl.obolibrary.org/obo/UBERON_0004111 | anatomical conduit |
| http://purl.obolibrary.org/obo/UBERON_0003089 | sclerotome |
| http://purl.obolibrary.org/obo/UBERON_0005856 | developing mesenchymal condensation |
| http://purl.obolibrary.org/obo/UBERON_0011585 | cell condensation |
| http://purl.obolibrary.org/obo/UBERON_0007530 | migrating mesenchyme population |
| http://purl.obolibrary.org/obo/GO_0019752 | carboxylic acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0043436 | oxoacid metabolic process |
| http://purl.obolibrary.org/obo/GO_0006082 | organic acid metabolic process |
| http://purl.obolibrary.org/obo/GO_0044237 | cellular metabolic process |
| http://purl.obolibrary.org/obo/GO_0009987 | cellular process |
| http://purl.obolibrary.org/obo/GO_0071704 | organic substance metabolic process |
| http://purl.obolibrary.org/obo/GO_0044281 | small molecule metabolic process |
| http://purl.obolibrary.org/obo/GO_0008152 | metabolic process |
| http://purl.obolibrary.org/obo/UBERON_0003080 | anterior neural tube |
| http://purl.obolibrary.org/obo/UBERON_0003081 | lateral plate mesoderm |
| http://purl.obolibrary.org/obo/UBERON_0007524 | dense mesenchyme tissue |
| http://purl.obolibrary.org/obo/UBERON_0003104 | mesenchyme |
| http://purl.obolibrary.org/obo/UBERON_0002050 | embryonic structure |
| http://purl.obolibrary.org/obo/UBERON_0003082 | myotome |
| http://purl.obolibrary.org/obo/UBERON_0017650 | developing mesenchymal structure |
| http://purl.obolibrary.org/obo/UBERON_0003083 | trunk neural crest |
| http://purl.obolibrary.org/obo/UBERON_0015077 | centrale cartilage |
| http://purl.obolibrary.org/obo/UBERON_0015067 | centrale endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015079 | proximal carpal cartilage |
| http://purl.obolibrary.org/obo/GO_0005102 | signaling receptor binding |
| http://purl.obolibrary.org/obo/GO_0005515 | An anchoring protein, ZFYVE9 (SARA), recruits SMAD2/3 |
| http://purl.obolibrary.org/obo/GO_0005488 | binding |
| http://purl.obolibrary.org/obo/UBERON_0003098 | optic stalk |
| http://purl.obolibrary.org/obo/UBERON_0010371 | ecto-epithelium |
| http://purl.obolibrary.org/obo/UBERON_0034705 | developing neuroepithelium |
| http://purl.obolibrary.org/obo/UBERON_0000483 | epithelium |
| http://purl.obolibrary.org/obo/UBERON_0003099 | cranial neural crest |
| http://purl.obolibrary.org/obo/UBERON_0005291 | embryonic tissue |
| http://purl.obolibrary.org/obo/UBERON_0010314 | structure with developmental contribution from neural crest |
| http://purl.obolibrary.org/obo/UBERON_0004121 | ectoderm-derived structure |
| http://purl.obolibrary.org/obo/UBERON_0003091 | thyroid primordium |
| http://purl.obolibrary.org/obo/UBERON_0004119 | endoderm-derived structure |
| http://purl.obolibrary.org/obo/UBERON_0001048 | primordium |
| http://purl.obolibrary.org/obo/UBERON_0005423 | developing anatomical structure |
| http://purl.obolibrary.org/obo/UBERON_0000479 | tissue |
| http://purl.obolibrary.org/obo/UBERON_0015086 | distal carpal bone 1 pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015085 | distal carpal bone 1 cartilage |
| http://purl.obolibrary.org/obo/UBERON_0015088 | distal carpal bone 2 cartilage |
| http://purl.obolibrary.org/obo/GO_0032729 | positive regulation of interferon-gamma production |
| http://purl.obolibrary.org/obo/GO_0032649 | regulation of interferon-gamma production |
| http://purl.obolibrary.org/obo/UBERON_0015089 | distal carpal bone 2 pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015087 | distal carpal bone 2 endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015080 | proximal carpal bone pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015078 | proximal carpal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015082 | proximal tarsal cartilage |
| http://purl.obolibrary.org/obo/UBERON_0035129 | pes cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010885 | hindlimb cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0017751 | proximal mesopodial cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0015084 | distal carpal bone 1 endochondral element |
| http://purl.obolibrary.org/obo/GO_0032722 | positive regulation of chemokine production |
| http://purl.obolibrary.org/obo/GO_0032642 | regulation of chemokine production |
| http://purl.obolibrary.org/obo/GO_0001819 | positive regulation of cytokine production |
| http://purl.obolibrary.org/obo/GO_0010628 | positive regulation of gene expression |
| http://purl.obolibrary.org/obo/GO_0010604 | positive regulation of macromolecule metabolic process |
| http://purl.obolibrary.org/obo/GO_0009893 | positive regulation of metabolic process |
| http://purl.obolibrary.org/obo/GO_0001817 | regulation of cytokine production |
| http://purl.obolibrary.org/obo/GO_0010468 | regulation of gene expression |
| http://purl.obolibrary.org/obo/GO_0060255 | regulation of macromolecule metabolic process |
| http://purl.obolibrary.org/obo/GO_0019222 | regulation of metabolic process |
| http://purl.obolibrary.org/obo/GO_0051240 | positive regulation of multicellular organismal process |
| http://purl.obolibrary.org/obo/GO_0051239 | regulation of multicellular organismal process |
| http://purl.obolibrary.org/obo/GO_0048518 | positive regulation of biological process |
| http://purl.obolibrary.org/obo/GO_0050789 | regulation of biological process |
| http://purl.obolibrary.org/obo/GO_0065007 | biological regulation |
| http://purl.obolibrary.org/obo/GO_0008150 | biological_process |
| http://purl.obolibrary.org/obo/UBERON_0015083 | proximal tarsal bone pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015081 | proximal tarsal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0017750 | proximal mesopodial endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0010886 | hindlimb pre-cartilage condensation |
| http://purl.obolibrary.org/obo/GO_0017113 | dihydropyrimidine dehydrogenase (NADP+) activity |
| http://purl.obolibrary.org/obo/GO_0016628 | Defective SRD5A3 does not reduce pPNOL to DCHOL |
| http://purl.obolibrary.org/obo/GO_0016627 | COX15 transforms heme O to heme A |
| http://purl.obolibrary.org/obo/GO_0016491 | Diiodinated tyrosine can be deiodinated |
| http://purl.obolibrary.org/obo/GO_0003824 | catalytic activity |
| http://purl.obolibrary.org/obo/GO_0003674 | molecular_function |
| http://purl.obolibrary.org/obo/BFO_0000015 | process |
| http://purl.obolibrary.org/obo/BFO_0000003 | occurrent |
| http://purl.obolibrary.org/obo/UBERON_0015099 | distal tarsal endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0018099 | distal mesopodial endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015050 | tarsus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015022 | hindlimb endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015091 | distal carpal bone 3 cartilage |
| http://purl.obolibrary.org/obo/UBERON_0015092 | distal carpal bone 3 pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015090 | distal carpal bone 3 endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015095 | distal carpal bone 4 pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010884 | forelimb bone pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0010882 | limb bone pre-cartilage condensation |
| http://purl.obolibrary.org/obo/UBERON_0015094 | distal carpal bone 4 cartilage |
| http://purl.obolibrary.org/obo/UBERON_0035128 | manus cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0010883 | forelimb cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0015064 | autopod cartilage |
| http://purl.obolibrary.org/obo/UBERON_0010881 | limb cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0007844 | cartilage element |
| http://purl.obolibrary.org/obo/UBERON_0015093 | distal carpal bone 4 endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015049 | carpus endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015063 | autopod endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015021 | forelimb endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0015061 | limb endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0010363 | endochondral element |
| http://purl.obolibrary.org/obo/UBERON_0004765 | skeletal element |
| http://purl.obolibrary.org/obo/UBERON_0000062 | organ |
| http://purl.obolibrary.org/obo/BFO_0000040 | material entity |
| http://purl.obolibrary.org/obo/UBERON_0010000 | multicellular anatomical structure |
| http://purl.obolibrary.org/obo/UBERON_0004120 | mesoderm-derived structure |
| http://purl.obolibrary.org/obo/CARO_0000000 | anatomical entity |
| http://purl.obolibrary.org/obo/CARO_0030000 | biological entity |
| http://purl.obolibrary.org/obo/UBERON_0000061 | anatomical structure |
| http://purl.obolibrary.org/obo/UBERON_0000465 | material anatomical entity |
| http://purl.obolibrary.org/obo/UBERON_0001062 | anatomical entity |
| http://purl.obolibrary.org/obo/BFO_0000004 | independent continuant |
| http://purl.obolibrary.org/obo/BFO_0000002 | continuant |
| http://www.w3.org/2002/07/owl#Thing | http://www.w3.org/2002/07/owl#Thing |